CHD Types

Anomalous left coronary artery

Description

The coronary arteries are the blood vessels that supply the heart muscle with red or oxygen-rich blood. There are usually two large coronary arteries that arise from the aorta, one from the right side (1) and one from the left side (2). Sometimes, for unknown reasons, when the heart and blood vessels are forming, the left coronary artery (3) arises from the pulmonary artery (4). Right after birth, the pressure is the pulmonary artery is high so that enough blood flow through this vessel to supply the heart muscle with oxygen. Over the first two months of life, the pressure in the pulmonary artery drops and so does the blood flow through this vessel. The decreased amount of oxygen-rich blood leads to damage to the heart muscle cells. As a result, the heart is not able to pump as much blood as the body needs. This causes symptoms of congestive heart failure such as poor feeding, slow growth, clammy sweating, and poor growth. Often these symptoms are seen between 2 and 6 months of age, but they can occur during early infancy or rarely, during later childhood.

Effects
Diagnosis

Symptoms: As described above, the onset of symptoms of congestive heart failure most often occurs within the first 6 months of life. Possible symptoms include irritability, lethargy, rapid breathing, clammy sweating, poor feeding and slow growth. Physical findings: The physical findings of congestive heart failure in children include slow weight gain, rapid breathing and heart rates, and enlarged liver. In older children, there may also be swelling around the eyes and/or feet. Often a heart murmur is present. Medical tests: The suspected diagnosis is usually made by an echocardiogram. Sometimes, a heart catheterization may is needed to confirm the diagnosis. The electrocardiogram is usually abnormal. On chest x-ray, the heart is usually quite enlarged. An oxygen saturation test is used to measure the blood oxygen levels.

Treatment

ALCA is a serious problem and requires surgery as soon as possible after the diagnosis is made. The aim of surgery is to connect the ALCA with the aorta. The precise surgery depends on the exact location of the ALCA. Sometimes, it can be moved, along with a button of tissue, from the pulmonary artery and sewn into the aorta. If the ALCA is located too far away from the aorta to move, a "tunnel" is made from the aorta to the ALCA.

Prognosis

The long-term health effects reflect the degree of damage to the left ventricle. If the problem was found early, before much damage occurred, and the surgery was successful, there are few long-term health effects. If the left ventricle was damaged, there may be ongoing symptoms of congestive heart failure. As a result, the child may have low stamina, and may need to be restricted from sports. The symptoms are often treated with medicines such as digoxin, diuretics, blood pressure lowering medicines, and/or blood thinners. If the damage if very severe, a heart transplant may be needed. SBE prophylaxis: Children with ALCA are at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart and/or abnormalities of the valves. SBE can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. The problem can usually be prevented by taking an antibiotic before these procedures. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. In children with ALCA, sports guidelines are based on the degree of heart damage. If there is some damage, children are usually restricted from vigorous or competitive sports but can participate in recreational sports. It is important for them to be able to self-limit their activity, that is, to rest whenever they feel the need to do so. The children can usually participate in gym class but should be allowed to self-limit their level of exertion and they should not be graded (which could increase the pressure to exceed their natural limits).

Bicuspid aortic valve

Description

The aortic valve (1) is one of four valves in the normal heart. It sits between the left ventricle (2) and the aorta (3). Heart valves are thin flaps of tissue anchored in a fibrous ring. The normal aortic valve has 3 leaflets (4) that open to allow blood to move forward and close to prevent backward blood flow. In bicuspid aortic valve (5), there are only 2 leaflets instead of three and the valve leaflets are often thickened. This can result in obstruction of blood flow across the valve, a condition called aortic stenosis and/or valve leakage, a condition called aortic valve regurgitation. The natural course of bicuspid aortic valve varies widely. There can be severe aortic stenosis at birth, due to incomplete opening of the valve leaflets. Aortic stenosis can also develop during childhood, during adulthood, peaking around the fourth decade of life, or it may never develop. Aortic valve leakage (called aortic regurgitation or aortic insufficiency) is less common during early childhood but can also develop over time. The remainder of this section refers to patients with bicuspid aortic valve without aortic stenosis.

Effects

Bicuspid aortic valve alone does not cause symptoms unless significant obstruction or leakage develop. Since the narrowing tends to increase over time and can progress during childhood, follow-up by a specialist is needed. Children with bicuspid valve are at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart. It can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. SBE can usually be prevented by taking an antibiotic before these procedures.

Diagnosis

Symptoms: Bicuspid aortic valve without aortic stenosis does not cause any symptoms. Physical findings: The presence of an extra heart sound called a "click" and a heart murmur alert the doctor to the possible diagnosis. Since the findings can be quite subtle, the diagnosis may not be made until later childhood or even adulthood. Medical tests: The suspected diagnosis is confirmed by an echocardiogram. Other tests include an electrocardiogram and chest x-ray.

Treatment

Treatment is needed only if the valve becomes obstructed or leaky. See section on treatment of aortic stenosis for more information.

Prognosis

What are the long-term health issues for these children? SBE prophylaxis: SBE prophylaxis is needed as outlined above. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Generally, there are no restrictions needed for children with bicuspid aortic valve as long as there is there is no or only slight valve obstruction or leakage.

Coarctation of the aorta

Description

Coarctation of the aorta is a narrowing of the aorta that causes a blockage to blood flow. Most coarctations are congenital and are usually discovered in infancy; however, some coarctations develop over time. The narrowing may be discrete or may extend over a long segment of the aorta. Most coarctations are located in chest, but rarely they can occur in the abdomen. The terms "simple" and "complex" are used to describe coarctations that are either isolated or associated with other congenital heart disease. Some of the types of congenital heart disease associated with coarctation include ventricular septal defect, atrioventricular canal, and double outlet right ventricle, to name just a few. Coarctation of the aorta is the seventh or eighth most common form of congenital heart disease. It is twice as common in boys as in girls. Coarctation rarely runs in families. The only syndrome that has a strong association with coarctation is Turner's syndrome (a condition where a girl has only one instead of two X-chromosomes).

Effects

Infants with coarctation frequently come to medical attention because of congestive heart failure. A narrowing of the aorta results in a selective elevation in blood pressure in the upper extremity blood vessels and ultimately in an increased workload for the heart. In some newborns with coarctation, closure of the ductus arteriosus results in an acute increase in heart work. If the coarctation is severe, the increased heart work results in the development of congestive heart failure. In infants with milder degrees of coarctation the heart adapts to the increase in work and heart failure does not occur. The cardiovascular system has two major ways that it uses to respond to the increased work caused by coarctation of the aorta. The first way the body uses to compensate for the increased cardiac workload associated with coarctation of the aorta is the development of extra heart muscle (myocardial hypertrophy). The second way is the development of collateral vessels to bypass the aortic obstruction. As the child develops these alternative blood channels the blood pressure and cardiac work are reduced and there is an improvement in blood supply to the abdominal organs such as the liver, gastrointestinal tract and kidneys. If the child has coarctation in combination with other heart defects, the extra workload for the heart may additive. For example, the presence of a coarctation will increase the amount of blood flowing across a ventricular septal defect; thus, making a small hole act, as far as the heart is concerned, as if it were a large hole.

Diagnosis

Clinical features: In contrast to infants, most children with coarctation have no symptoms. If symptoms are present they are usually nonspecific and relate either to the result of high blood pressure (hypertension) in the upper part of the body (causing headaches or frequent nose bleeds) or to reduced blood supply to the lower extremities (exercise induced leg pain, claudication). In infancy, coarctation can be associated with congestive heart failure. Although heart failure can develop any time during the first six months of life, it typically develops during the first 6 weeks of life. The major features associated with heart failure are a rapid heart and respiratory rate and poor weight gain. The infant in uncontrolled heart failure needs immediate diagnosis and treatment, since shock and death can rapidly develop. Physical findings: The hallmarks of coarctation of the aorta are absent leg pulses and a difference in blood pressure between the arms and legs (high blood pressure in the arms and low to normal blood pressure in the legs). The typical heart murmur that is associated with a coarctation is a systolic murmur that is loudest in the back below the left shoulder blade (scapula). If a prominent back murmur is not heard and the child has a blood pressure difference between arms and legs a coarctation located in the abdomen should be considered. Medical tests: The chest x-ray can be very helpful in suggesting the presence of coarctation of the aorta. However, the diagnosis is usually confirmed by an echocardiogram. Heart catheterization is now only performed either because the coarctation cannot be adequately documented by the echocardiogram or to treat the coarctation with the use of balloon angioplasty. Why treat children with coarctation of the aorta? Untreated coarctation of the aorta significantly reduces life expectancy, with death frequently occurring within the fourth to fifth decade. Causes of death in individuals with unoperated coarctation of the aorta include congestive heart failure, aortic rupture, bacterial endocarditis, and stroke

Treatment

Management of the individual with coarctation of the aorta must be individualized. In the children without symptoms, in who a coarctation is diagnosed on routine examination, repair of the coarctation, either surgically or using balloon angioplasty at a cardiac catheterization is usually recommended by 18-24 months of age. In the newborn or infant with coarctation who presents in congestive heart failure, initial treatment consists of stabilizing the infant with medications. These medications include agents that increase the strength of the heartbeat; inotropic agents and medicines that help the body remove excess fluids, diuretics. If the infant is less than 2 weeks of age the baby will receive a medicine to open the ductus arteriosus, prostaglandin E1, and the most critically ill babies will require the use of a ventilator to help the baby breathe. After a brief period of stabilization, infants with coarctation and congestive heart failure require surgical repair. Surgical repair involves removing the narrowed segment of aorta and reconnecting the ends directly. Although rare, in some children it is necessary to place a piece of artificial material (Dacron or Gore-Tex) to enlarge or bypass the area of narrowing. Balloon angioplasty is performed at the time of a heart catheterization. The angioplasty involves the placement of a special balloon catheter across the narrowed area and then inflating the balloon and thereby stretching open the aorta.

Prognosis

The long-term outlook for children who have had their coarctation repaired, whether it be surgery or angioplasty, is excellent. Children who have successful repair of coarctation can usually live full and productive lives and women can usually safely become pregnant. However, there are a number of medical problems that can also occur late after repair. 1. Recoarctation Recoarctation is the redevelopment of a narrowing in the aorta. This problem occurs more commonly in children who have had their coarctation repaired very early in life. Recoarctation occurs in around 5-10 % of the time in children who have had their repair in infancy and less than 3% of the time if the repair was performed after 3 years of age. Treatment of recoarctation of the aorta usually is with balloon angioplasty. 2. High Blood Pressure One of the most common medical problems seen in people after successful repair of coarctation is high blood pressure. Approximately 60% of people who have had their coarctation repaired will require, as adults, medicines to treat high blood pressure. 3. Other medical problems Other medical problems that are rarely seen in people after successful repair of coarctation are: the development of aneurysms in the aorta, the early development of coronary artery disease, the development of disease to the aortic valve and the development of a stroke.

Complex single ventricle

Description

The term "complex single ventricle" and "uni-ventricular heart" are used to describe a group of rare heart defects, which have in common, a large single pumping chamber or ventricle instead of the usual two. In terms of health effects and surgical treatment, these defects are similar to two other defects described elsewhere in our site including hypoplastic left heart syndrome and tricuspid atresia. This group includes the more specific heart diagnoses of double inlet left ventricle and double inlet right ventricle.

Effects

Complex single ventricle is a serious problem and without surgery, most children would not be able to survive the first year of life. Surgery involves a staged approach done in either two or three steps, depending on the degree of pulmonary blood flow. As described above, a child with complex single ventricle has only one working ventricle (1). In many cases, there is a second, small non-functioning ventricle (2). Prior to surgery, blue and red blood mix within the larger ventricle, allowing enough red (oxygenated) blood to reach the body. There may be either too much blood flow to the lungs or too little, depending on the amount of blockage at the level of the pulmonary valve (3). If there is too much blood flow to the lungs the baby may develop congestive heart failure with symptoms of poor feeding, clammy sweating, fast breathing, low energy, and slow growth. If there is very low blood flow to the lungs, the baby will have a blue color of the lips and fingernails. The medical term for this is cyanosis. Blood flow to the lungs may depend on a patent ductus arteriosus (PDA). This a small blood vessel that, prior to birth, permits the blood to by-pass the baby’s fluid-filled lungs. Normally, one to two days after birth, this vessel closes. In some babies with complex single ventricle, closure of the ductus arteriosus removes a necessary part of the blood supply system and can result in very low oxygen levels and shock. In this case a medicine called prostaglandin is given to keep the ductus arteriosus from closing.

Diagnosis

Prenatal diagnosis: Complex single ventricle can be diagnosed before birth by a fetal echocardiogram or heart ultrasound as early as 18 weeks into the pregnancy. This test is done when there is a family history of congenital heart disease or when a question is raised during a routine prenatal ultrasound. Symptoms: In a newborn baby, usually, cyanosis is what alerts parents or health care providers that the child may have a heart problem. This is most often noted during the first week of life. Later on, possible symptoms include rapid breathing, sweating, low energy and poor weight gain. If the baby depends on the ductus arteriosus for blood supply to the lungs, it may close during the first week of life causing sudden, severe cyanosis. Physical findings: Most babies with complex single ventricle are born at term and are a normal weight and length (since before birth the baby’s oxygen comes from the mother). After birth, the baby’s lips and fingernails may look blue. A heart murmur is almost always heard and congestive heart failure may develop. Symptoms of congestive heart failure in infants include rapid breathing, clammy sweating, poor feeding, and poor growth. Medical tests: The suspected diagnosis is confirmed by an echocardiogram. Sometimes, a heart catheterization is needed to help the doctors plan the surgery. An oxygen saturation test is used to measure the blood oxygen levels. Other tests include an electrocardiogram and chest x-ray.

Treatment

Please see Treatment of Tricuspid Atresia for information about surgery.

Prognosis

After the operations, most children live quite normal lives and most have normal intelligence. They are able to go to daycare, school, play with friends, and participate in the usual recreational activities. They tend to have lower endurance levels than others their age and may require more rests during physical activities. These children are restricted from vigorous and competitive sports so it is important for parents to help them find other areas of interest. Possible long-term medical problems for children born with complex single ventricle include abnormal heart rhythms, specifically, atrial flutter and/or sick sinus syndrome and congestive heart failure. SBE prophylaxis: Children with complex single ventricle are at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart and or abnormalities of the valves. It can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. SBE can usually be prevented by taking an antibiotic before these procedures. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Children with complex single ventricle are generally restricted from participating in vigorous or competitive sports but can participate in recreational sports. It is important for them to always be able to self-limit their activity, that is, to rest whenever they feel the need to do so. The children can usually participate in gym class but should be allowed to self-limit their level of exertion and they should not be graded (which could increase the pressure to exceed their natural limits).

Corrected transposition of the great arteries

Description

Early in fetal life the heart first forms in the shape of a tube. This tube bends and folds in on itself, creating the four heart chambers and the four heart valves. (Click here to learn more about normal hearts). If the tube bends to the left instead of the right, the ventricles are reversed: the right ventricle is on the left and the left ventricle is on the right. Two of the heart valves "follow " the ventricles so they are also reversed: the mitral valve is on the right and the tricuspid valve is on the left. Although the two heart valves and the two great arteries (the pulmonary artery and the aorta are transposed or exit from the "wrong" ventricle, the blood flows to the correct place because the ventricles are also reversed. That is why this heart defect is called "corrected" transposition. While corrected transposition can occur by itself, most babies have other heart defects, too. Other defects include ventricular septal defects (seen in 60-80% of children), pulmonary stenosis (seen in 30-50% of children), abnormal tricuspid valve (seen in up to 90% of children but may be very mild), and complete heart block (seen in 10% of children at birth, but can occur later, in up to 30% of older children). Dextrocardia, when the heart is positioned towards the right side of the chest instead of the left side, is seen in about 25% of these children

Effects

The reversal of the ventricles alone does not usually have an adverse effect during childhood. The early health effects of corrected transposition result from the other associated heart problems (listed above). If the baby has a large ventricular septal defect, symptoms of congestive heart failure may develop including rapid breathing, clammy sweating, poor feeding and slow growth. These symptoms are caused by too much blood flow to the lungs and are not usually seen until the baby is 6 to 8 weeks old. Often VSDs get smaller during the first year of life, so the first treatment tried is usually heart medicines. If these don’t control the symptoms, a heart operation to close the VSD may be needed. If the child has pulmonary stenosis (narrowing of the area in and around the pulmonary valve) along with the VSD, this may protect the lungs from too much blood flow. However, if the pulmonary stenosis is too severe, it can cause its own problems. Under these conditions , since blood follows the path of least resistance, blue blood will flow right to left across the VSD (and not to the lungs) then out to the body causing the baby to look a little "blue". The medical term for this is cyanosis. The effects of an abnormal tricuspid valve vary based on how much the valve leaks. Mild leakage is tolerated quite well and does not need to be treated. If the leakage is moderate to severe, the forward flow of blood out to the body is limited and symptoms of congestive heart failure occur including low energy levels, clammy sweating, fast breathing, poor appetite and poor growth. If the valve is too leaky, heart medicines may help but sometimes an operation to either repair or replace the valve is needed. Heart block refers to an abnormally slow heart rate caused by a block in the heart’s electrical system where the impulse passes from the heart’s upper chambers to the lower chambers. (Please click here to find out more about the heart’s electrical system). If there are no other problems such as a VSD, pulmonary stenosis, and/or a leaky tricuspid valve, then the slow heart rate may not cause symptoms, at least not early on. If there are other heart problems the slow heart rate further impairs the heart’s ability to meet the body’s needs, adding to the symptoms of congestive heart failure. In this case a pacemaker may be needed. The reversed position of the ventricles and valves, alone, does not usually cause any health effects during childhood and, if there are no other heart problems present, a person may never even know that they have corrected transposition. It can, however, cause health problems later on, during adulthood. The ventricle that ended up on the left, and now has to do the job of pumping blood out to the body, was not really "made" to do this job. It is much more suited to pump blood to the lower pressure lung circuit. While the misplaced ventricle is able to do the extra work needed to pump blood out to the body for 20 or 30 years or more, it can then begin to weaken, leading to symptoms of congestive heart failure. Early symptoms can be treated quite well with heart medicines but, if these progress, in advanced stages the person may need a heart transplant.

Diagnosis

Prenatal diagnosis: Corrected transposition can be diagnosed before birth by a fetal echocardiogram or heart ultrasound as early as 18 weeks into the pregnancy. This test is done when there is a family history of congenital heart disease or when a question is raised during a routine prenatal ultrasound. Fetal diagnosis of corrected transposition can be difficult unless there is also a VSD, pulmonary stenosis, or heart block. Symptoms: If the only problem is the reversal in position of the ventricles, there are usually no symptoms until adulthood, and indeed, some people live an entire lifetime without ever knowing they have this "problem". Most of the time, however, there are other heart problems, too. If there is a large VSD, and not much pulmonary stenosis, symptoms of congestive heart failure occur, usually when a baby is between 6 and 8 weeks of age. If there is a VSD and moderate to severe pulmonary stenosis, the child’s lips and nailbeds may look blue. The medical term for this is cyanosis. If heart block develops possible symptoms include low energy, dizziness, and/or fainting. Physical findings: Most babies with corrected transposition are born at term and are a normal weight and length. Again, if the only problem is the reversal in position of the ventricles, the examination will be normal. If a VSD, pulmonary stenosis, and/or a leaky tricuspid valve is present, a heart murmur is heard. If there is congestive heart failure, there will be increased heart rate, increased breathing rate, and an enlarged liver. In an older child or adult there may also be swelling of the feet. If there is heart block, the child’s heart rate will be slower than normal. Medical tests: The diagnosis is confirmed by an echocardiogram. An oxygen saturation test is used to measure the blood oxygen levels. Other tests include an electrocardiogram and chest x-ray.

Treatment

The treatment depends on the presence and severity of other associated heart problems. Congestive heart failure in children is usually first treated with medicines including digoxin and lasix. If these don’t help, and if there is a "fixable" heart defect such as a VSD and/or pulmonary stenosis, a heart operation may be needed. If the pulmonary stenosis is very severe, a conduit may be needed. A conduit is a tube made of Dacron that has a valve inside it. One end of the conduit is sewn into the right ventricle and the other end is sewn into the pulmonary artery. If the tricuspid valve is too leaky, an operation to repair or replace it may be necessary. If the valve is replaced, the child will need to be on blood thinning medicines. If there is heart block causing symptoms of fatigue, dizziness or fainting, a pacemaker is needed. During adulthood, if congestive heart failure occurs because of longstanding overwork of the misplaced ventricle, the first line of treatment is also heart medicines. If the heart failure progresses so that medicines are no longer effective, a heart transplant may be needed. In an effort to prevent later problem with congestive heart failure, an operation called the double-switch operation has been proposed. It is most often done during the first six months of life when there is a very leaky tricuspid valve and/or when the right ventricle has poor function right after birth. This operation involves both an arterial switch operation and an atrial switch operation (also called a Mustard or Senning operation). If there is pulmonary stenosis and a ventricular septal defect, a Rastelli and atrial switch operation are done. The goal is to rebuild the heart so that the ventricle on the left side now pumps to the lungs and the ventricle on the right side now pumps to the body. Early and mid-term outcome results suggest that this can be done safely with good results but it has not been done long enough to know what the long-term results will be.

Prognosis

Given current improvement in medical and surgical treatments, the outlook for children with corrected transposition and associated heart problems is good. Long-term there may be problems with heart failure and abnormal heart rhythms, so ongoing follow-up by a heart specialist is needed. Careful consideration is needed for women with corrected transposition prior to pregnancy as congestive heart failure can result from the extra demands pregnancy places on the heart. SBE prophylaxis: Children with corrected transposition are at increased risk for subacute bacterial endocarditis (SBE) but only if they also have either a VSD, pulmonary stenosis, and/or a leaky tricuspid valve. SBE is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart. SBE can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. Fortunately, the problem can usually be prevented by giving an antibiotic before these procedures. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. In general, there are few restrictions for children with corrected transposition but this really depends on the presence and severity of other heart defects. If a pacemaker or valve replacement is needed, the child will usually be restricted from vigorous or competitive sports but can participate in non-contact recreational sports. The doctor may recommend that the child be able to self-limit their activity, which means that they should be allowed to rest whenever they feel the need to do so.

Dextrocardia

Description

There are two major types of dextrocardia. Dextrocardia with situs inversus The abdominal organs of people with dextrocardia are usually reversed in the same way as the heart. The appendix, for example, which is normally found on the right side of the body would be found on the left side of the abdomen. This is called situs inversus. Isolated dextrocardia This is when the heart is found on the right-hand side of the chest and the abdominal organs are in their normal place (without situs inversus). It is very rare and may be accompanied by complex congenital heart conditions. The outcome of any treatment depends upon the particular defects. Dextrocardia with Situs Inversus, a rare condition that is present at birth, is transmitted by autosomal recessive genes. The primitive loop in the embryo moves into the reverse direction of its normal position during fetal development, causing displacement of organs. Human traits including the classic genetic disorders are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

Effects

People born with dextrocardia do not normally experience any problems, although the condition may very rarely be accompanied by congenital heart defects. Electrocardiograms (ECGs, which records the electrical activity of your heart) in patients with this condition can however be misleading. For this reason, it is important that those with dextrocardia inform doctors of their condition.

Diagnosis

Dextrocardia with Situs Inversus is characterised by the reversal of the normal position of the heart chambers and abdominal organs such as the liver and spleen. The electrocardiogram shows an inversion of the electrical waves from the heart. The apex of the heart is positioned on the right side of the chest whereas it is normally located on the left. Situs abnormalities may be recognized first by using radiography or sonography. However, CT is the preferred examination for definitive diagnosis of situs inversus with dextrocardia. CT provides good anatomic detail for confirming visceral organ position, cardiac apical position, and great vessel branching. MRI is usually reserved for difficult cases or for patients with associated cardiac anomalies.

Treatment

This is a very rare condition and if the heart is normal it requires no medication or surgery.

Prognosis

If the heart was formed normally and is in the right side of the chest those children usually lead normal lives with normal ability to grow, develop well, and play sports. Limitations come from other heart defects or defects of the lungs or chest which cause the heart to be on the right.

Dilated Cardiomyopathy

Description

The normal heart is a four-chamber pump whose beat is controlled by the heart’s electrical system. The heart walls are made of muscle cells that respond to the heart’s electrical impulse by briskly contracting (shortening). When the cells all contract together, the blood is pumped forward. In cardiomyopathy, the abnormal heart muscle cells prevent the heart from pumping with its normal vigor. The abnormal cells can also be a source of abnormal heart rhythms, called arrhythmias.

Effects

The health effects of DCM vary widely and depend on the degree of heart muscle damage. In mild cases, there may be no symptoms or only symptoms with exercise. In more severe cases, the heart is unable to pump enough blood to meet the body’s needs, causing symptoms of congestive heart failure. DCM can also be associated with abnormal heart rhythms including atrial flutter, atrial fibrillation, heart block, and ventricular tachycardia. The course of the disease varies widely. If caused by myocarditis, the heart function improves (with medical treatment) in about one-third to one-half of patients. In others, the heart function can remain stable for long periods of time, but can worsen again many years later requiring more intensive medical treatment and, sometimes, even a heart transplant. In others, heart transplantation is needed right away.

Diagnosis

Symptoms: Possible symptoms include palpitations (heart racing or "skipping" heart beats), low energy levels, and low exercise tolerance. Symptoms of congestive heart failure also include rapid breathing, clammy sweating, poor appetite, poor weight gain in young children, and swelling around the eyes, hand, and feet (more common in older children and young adults). Physical findings: The exam depends on the degree of heart damage. If the damage is mild, the exam may be normal. If there is congestive heart failure, the heart rate and breathing rate are often fast. There may be a heart murmur (made by abnormal backward flow through the mitral valve) or other extra heart sounds and the liver is often enlarged. Medical tests: An echocardiogram is the main test used to make the diagnosis and to measure the severity of the problem. Blood work is often done. Other heart tests include an electrocardiogram (ECG) and Holter monitor. On chest x-ray, the heart is usually enlarged. Sometimes a heart catheterization with a heart biopsy is done to confirm the diagnosis and help find the cause.

Treatment

In mild cases, treatment may not be needed. Heart medicines such as digoxin, lasix, and captopril or enalapril are used to control symptoms of congestive heart failure and to preserve or improve heart function. Blood thinners such as aspirin or warfarin (Coumadin) may be used to prevent clots from forming within the heart. Rapid heart rhythms are treated by heart medicines and, if life-threatening, by an implanted cardioverter-defibrillator (ICD). For slow heart rhythms, a pacemaker may be needed. A heart transplant may be needed if there are severe symptoms in spite of treatment with heart medicines.

Prognosis

The long-term health effects vary and depend on the degree of heart damage and the rate of disease progression. If the damage is caused by myocarditis, heart function can return to normal or near normal. In many children, DCM remains stable, given proper medical treatment, and health-related lifestyle changes are needed. In others, the problem can be very severe and if it does not respond to treatment, a heart transplant is needed. SBE prophylaxis: Children with DCM are at increased risk for subacute bacterial endocarditis (SBE) if there is heart valve leakage. SBE is an infection of the heart caused by bacteria in the blood stream. Children with heart valve leakage heart are more prone to this problem because of the altered flow of blood through the heart. It can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. SBE can usually be prevented by taking an antibiotic prior to the procedure. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Children with DCM are often not allowed to play competitive sports. The children can usually participate in gym class but should be allowed to self-limit their level of exertion and they should not be graded (which could increase the pressure to exceed their natural limits).

Double-Outlet Right Ventricle

Description

Double outlet right ventricle (DORV) is a condition in which both the pulmonary artery and the aorta connect to the right ventricle. DORVs are usually accompanied by one of a number of ventricular septal defects. The three types of VSDs most likely to occur with DORV are subaortic VSD (the defect is located beneath the aortic valve), subpulmonary VSD (the defect is located beneath the pulmonary valve) and doubly committed VSD (the defect is located within the septal band and immediately beneath the leaflets of the aortic and pulmonary valves). Sometimes the baby will have other associated cardiac defects.

Effects

Symptoms tend to occur early in life, often within days of birth. Your child may suffer blueness of the skin (cyanosis) and breathlessness, and he or she may be unable to put on weight. The symptoms will vary depending on the extent of the abnormality or the presence of other defects.

Diagnosis

Physical findings: The presence of a heart murmur, mild cyanosis (blue color from low oxygen levels in the blood), fast heart rate, and fast breathing rate are the first clues that an infant has DORV. Medical tests: The first tests often ordered are an electrocardiogram, chest x-ray and oxygen saturation test. The oxygen level in the blood is usually a little low. The primary diagnostic tool for diagnosis is an echocardiogram. Cardiac catheterization is done if there are any questions not clearly answered by the echocardiogram.

Treatment

The goal of the surgical treatment of DORV is a complete anatomic repair. The left ventricle is connected to the aorta, the right ventricle is connected to the pulmonary artery and the VSD is closed. Usually a complete repair is undertaken at as early an age as possible. Many babies affected by this condition may also suffer pulmonary stenosis or valve abnormalities. In these cases, your baby may need to have surgery in the first few weeks of life. Sometimes the child will need medication to reduce the heart failure (too much blood flow in the lungs). If the child is too blue (not enough blood going to the lungs) the child may need to have surgery to put a tube (shunt) into the lung artery to put more blood into the lung. This shunt would make the child pinker. Sometimes this type of heart defect can be fixed with an open heart surgery such that the hole is closed and the blue blood goes to lungs and the red blood goes to the body.

Prognosis

After surgical repair, pulmonary hypertension and heart failure may no longer present. A few patients will develop or re-develop some narrowing beneath the pulmonic or aortic valves. Regular follow-up by a pediatric cardiologist is indicated for this reason. The majority of patients are expected to have an excellent repair without restrictions or limitations in activities. Prophylactic antibiotics are required for certain dental and surgical procedures.

Ebstein’s anomaly of the tricuspid valve

Description

Ebstein’s anomaly occurs when the tricuspid valve fails to develop normally while the baby is in the womb. This problem ranges widely from very mild to severe. It is quite rare affecting 1 in 210,000 births and occurs equally in boys and girls. In the normal heart, the tricuspid valve is located on the heart’s right side between the atria (the upper chamber) and the ventricle (the lower chamber). A heart valve consists of thin flaps of tissue anchored in a fibrous ring. The valves ensure that the blood flows in a forward direction through the heart, opening to permit blood to flow forward, and closing as the heart contracts to prevent blood from flowing backwards. In Ebstein’s anomaly, the tricuspid valve leaflets (1) are attached below their usual place, down into the area that is usually part of the right ventricle (2). Two problems can result from their abnormal placement: the valve may leak and the small right ventricle may serve as a less effective pumping chamber. In addition to the valve problem, most people (90%) with Ebstein’s anomaly also have a hole between the heart’s upper two chambers, the atria. This is called an atrial septal defect or ASD (3). Between 10 and 25% of children with Ebstein’s anomaly also have Wolff-Parkinson-White syndrome. This can cause intermittent episodes of an abnormal fast heart rate called supraventricular tachycardia. In this situation, the child’s heart rate may be 200 to 250 beats per minute.

Effects

The health effects of Ebstein’s anomaly stem from the degree of valve displacement and leakage, the size of the atrial septal defect, and whether Wolff-Parkinson-White syndrome is present. The onset of symptoms is quite variable too, ranging from right after birth to adolescence. In mild Ebstein’s, with only mild displacement of the leaflets and very little valve leakage, the child may never develop heart-related symptoms. If the valve is severely displaced and leaky, blood cannot move forward effectively and "backs-up" into the right atrium. This causes an increase in right atrial pressure so, in the presence of an ASD, blood will follow the path of least resistance and flow from the right atrium to the left atrium. From there, it flows to the left ventricle and out to the body. This means that blue blood (blood that never went to the lungs to pick up oxygen) flows out to the body. This causes the child’s nailbeds and lips to look blue. The medical term for this is cyanosis. Over time, the valve leakage and poor function of the right ventricle can cause symptoms of heart failure such as low energy levels, poor stamina, rapid breathing, clammy sweating, and low endurance levels. The pooling of blood in the right atrium can also cause the atria to dilate or enlarge. This can lead to an abnormal fast heart rhythm called atrial flutter. Children with Ebstein’s are also more likely to have another type of abnormal fast heart rhythm called supraventricular tachycardia. This problem may occur whether or not they have Wolff-Parkinson-White syndrome.

Diagnosis

Symptoms: The symptoms depend on how severely the valve is affected. In very mild cases, there are usually no heart-related symptoms. If the valve is more severely affected, the child’s lips and nailbeds may look blue and symptoms of congestive heart failure such as low energy, rapid breathing, sweating, poor feeding, irritability, and poor growth may be seen. Episodes of very fast heart rate (supraventricular tachycardia) may also occur. Palpitations or "skipped" beats are common. Physical findings: Most babies with Ebstein’s anomaly are born at term and are a normal weight and length (since before birth the baby’s oxygen comes from the mother). The blood oxygen levels may be low causing the child’s lips and nailbeds to look blue. A heart murmur is usually heard. Medical tests: The suspected diagnosis is confirmed by an echocardiogram. An oxygen saturation test is used to measure the blood oxygen levels. Other tests include an electrocardiogram and chest x-ray.

Treatment

Many children with Ebstein’s anomaly do very well with little or no treatment required. If symptoms of congestive heart failure develop, medications such as digoxin or lasix may be used. In some patients, however, heart surgery is needed. In a newborn, if the valve is very leaky and abnormal, the baby’s blood oxygen may be so low that surgery is needed during the first weeks of life. In this case, a Blalock-Taussig shunt (also called an aortopulmonary shunt) is done. In this operation, a Gortex tube is sewn between the subclavian artery and the right pulmonary artery. This ensures that enough blood will reach the lungs with each heartbeat. In older children, if the valve is very leaky and there are symptoms of heart failure, surgery to repair or replace the tricuspid valve and close the atrial septal defect may be needed. Supraventricular tachycardia may be treated with medications or radiofrequency ablation.

Prognosis

Overall, the outlook for children with Ebstein’s is very good. Children with mild Ebstein’s may never have any symptoms or problems. Continued advancements in surgical and medical therapies have improved outcomes even for those children with the severest form of the defect. SBE prophylaxis: Children with Ebstein’s anomaly are at increased risk for subacute bacterial endocarditis (SBE). SBE is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart. SBE can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. Fortunately, the problem can usually be prevented by giving an antibiotic before these procedures. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Children with mild Ebstein’s generally have no exercise restrictions. Those with more severe forms may be restricted from vigorous or competitive sports but can participate in recreational sports. It is important for them to always be able to self-limit their activity, that is, to rest whenever they feel the need to do so. These children can usually participate in gym class but should be allowed to self-limit their level of exertion and they should not be graded (which could increase the pressure to exceed their natural limits).

Heart Block

Description

Heart block occurs at the level of the AV node. In first degree heart block, the impulse is slowed but does reach the ventricles — resulting in a normal heart rate. In second degree heart block, some of the impulses are blocked while others get through so the heart rate is often slower than normal and irregular. In third degree heart block (complete heart block) none of the impulses from the upper chambers are able to reach the lower chambers. Nearly all patients with complete heart block have what is called an escape rhythm. An escape rhythm comes from the heart’s lower chambers and provides a slow heart rate, usually between 40 and 60 beats a minute. The most common type of heart block is third degree heart block. This is also called complete heart block or complete atrioventricular heart block. It can be present at birth or it can occur later in life. If present at birth it is called congenital heart block. Overall, this is very rare but occurs more often if the mother has a disease called lupus erythromatosis. It is also more common in infants born with a rare heart defect called corrected transposition of the great arteries. Complete heart block can also occur after heart surgery. There is a greater risk of heart block when the surgery involves areas that are close to the normal conduction system. These operations include repair of subaortic stenosis, VSD repair, and mitral valve repair. Complete heart block can also be a complication of a heart infection such as myocarditis.

Effects

Children born with heart block who have an otherwise normal heart usually do very well even though their heart rates may be quite slow. Most of these children have good energy levels and grow and develop normally. In children with very slow heart rates (e.g. less than 45 to 50 beats per minute, long pauses between heart beats, low energy, or fainting a pacemaker may be needed).

Diagnosis

Medical tests: One of the first tests usually done is an electrocardiogram. This is a safe and painless test that involves putting some stickers across the chest. The stickers are connected to a machine that records the heart’s electrical activity.

Treatment

If the child has surgical heart block or symptoms from having too low a heart rate, the primary treatment is pacemaker implantation.

Prognosis

Overall the outlook for children with heart block is very good. As described above, the main treatment is placement of a pacemaker. Pacemakers are safe and effective and require few changes in lifestyle. Exercise guidelines: Exercise guidelines are best made by a patient’s doctor so that all relevant factors can be included. For patients with congenital heart block, there are usually no activity restrictions required although the person should be in a position to self-limit their activities if symptoms develop. After pacemaker implantation, most doctors restrict participation in contact sports. For patients with other heart problems in addition to heart block, exercise restrictions must be individualized.

Heart Murmur

Description

A heart murmur is a noise that the blood makes as it flows through the heart. It's like the noise water makes when it flows through a hose. Heart murmurs are common in children and are usually harmless. Murmurs related to a congenital (present at birth) heart defect or other problem involving the heart structures will be heard the loudest in the area of the chest where the problem occurs.

Effects

Heart murmurs usually don't mean there is anything wrong with your child's heart. Your doctor may call these murmurs "innocent" or "functional." An innocent murmur is just a noise caused by blood flowing through a normal heart. These noises are commonly heard in children because their hearts are very close to their chest walls. An innocent murmur can get louder or softer depending on your child's heart rate, such as when they're excited or scared. Doctors often hear heart murmurs when they check children who have a fever. Many innocent murmurs become hard to hear as children grow older and most usually go away on their own. Some children have what is known as an innocent murmur. These murmurs are not related to congenital heart defects, and usually resolve by the time a child reaches adulthood. An innocent heart murmur does not pose a health threat. If your child has an innocent heart murmur, he or she can run, jump and play, with no limits on activity. Your child doesn't need to take any medicine or be careful in any special way. Not all heart murmurs are symptoms of heart disease. Sometimes a murmur may be heard in a normal child who has a fever or who is anemic; these murmurs often go away when the underlying problem is treated. But, sometimes a heart murmur indicates a problem with your child's heart, such as: • A hole in the heart • A leak in a heart valve • A narrow heart valve If your child's physician hears an innocent murmur, he/she may want to perform additional tests to ensure a heart defect is not present.

Diagnosis

A murmur is heard through a stethoscope as the heart beats. Because a child's heart is very close to the chest wall, subtle noises can be heard more easily. However, sometimes a doctor won't be able to hear a child's heart murmur unless the child is sitting quietly. Though they can also be heard in younger infants, heart murmurs are most commonly discovered when the child is between 2 and 4 years old. Some doctors think this is because most children have had time to become familiar with their doctor and are more quiet and cooperative during the exam. Heart murmurs are rated on a scale from 1 to 6. Grade 1 is barely audible, whereas grade 6 is very loud. Your child's doctor may also note where in the heart the murmur is, what type of noise it's making (for example, whether it's a harsh or blowing sound), where it occurs in the heartbeat cycle, and whether it changes when your child moves to different positions. After this initial discovery, your child's doctor may refer your child to a pediatric cardiologist if further evaluation is necessary. Because of the common misconception that all heart murmurs are serious, it's important for parents to understand which type of murmur their child has and if it needs further evaluation. Types of murmurs include the following:

  • Systolic Murmur — A heart murmur that occurs during a heart muscle contraction. Systolic murmurs are divided into ejection murmurs (due to blood flow through a narrowed vessel or irregular valve) and regurgitant murmurs.
  • Diastolic Murmur — A heart murmur that occurs during heart muscle relaxation between beats. Diastolic murmurs are due to a narrowing of the mitral or tricuspid valves, or regurgitation of the aortic or pulmonary valves.
  • Continuous Murmur — A heart murmur that occurs throughout the cardiac cycle.

If your doctor suspects a problem, he or she may choose to refer your child to a pediatric cardiologist. This is a kind of doctor who has spent extra time learning about children's hearts. The cardiologist will examine your child and might do tests to find out if there is a problem. These tests include chest x-ray, electrocardiogram (EKG or ECG) or echocardiogram (sometimes called an "echo"). Remember, innocent heart murmurs are very common in healthy children with normal hearts, and pose no health threats. If you have any questions about your child's heart murmur, talk to your family doctor.

Treatment

Although many parents fear the worst when their child is diagnosed with a heart murmur, it's important to know that this diagnosis is actually extremely common. In fact, many kids are found to have a heart murmur at some point during their lives. Most murmurs are not a cause for concern and do not affect the child's health at all. If your child has been diagnosed with an innocent murmur, no special precautions need to be taken for dental procedures or other invasive medical procedures since your child has a structurally normal heart. However, people who have structural disease of the heart (such as a hole in the heart or an abnormal heart valve) are at higher risk for developing an infection of the heart (endocarditis) following routine teeth cleaning and other dental procedures such as fillings. Endocarditis can also develop following invasive medical procedures (for example, procedures that use a lighted scope to examine the stomach, colon or bladder). Taking appropriate antibiotics as directed by your doctor or dentist at the time of these procedures can prevent endocarditis. If your child requires antibiotics for such procedures because of a heart condition, your pediatric cardiologist will give you a card that specifically lists the type of antibiotics and dose schedule required. It is very important that these recommendations be followed, as endocarditis is a serious infection that can be fatal

Prognosis

A child with an innocent murmur can live a normal life and be as active as any other healthy child.

Heart Transplant

Description

A heart transplant is an open-heart surgery in which a severely diseased or damaged heart is replaced with a healthy heart from a recently deceased person. Heart transplantation has made great strides over the years. Today, more than 85 percent of heart recipients will live at least another year, and more than 70 percent will live another five years. However, patients continue to face a lengthy waiting list to receive a donor heart. Researchers are working to develop equipment to improve the health and comfort for patients waiting for a donor heart and, ideally, to develop a mechanical heart that could permanently solve the shortage problem.

Effects

Once the heart transplantation is performed, the child usually is hospitalized for one to three weeks. After being discharged from the hospital, patients will need to continue taking their medications and keeping their follow-up appointments religiously. The recovery process after a heart transplant is similar to that following other heart surgery. A cardiac rehabilitation program is often needed, because long-term heart failure is usually present. There are many changes that come with having a new heart, and depression is not uncommon. The support of family and friends during this difficult time is an important part of the recovery process.

Diagnosis

A heart transplant is recommended for children who have serious end-stage heart dysfunction and will not be able to live without having the heart replaced. Some of the illnesses that affect the heart in this way include complex congenital heart defects and cardiomyopathy (a disease of the heart muscle in which the heart loses its ability to pump blood effectively). An extensive evaluation must be completed before your child can be placed on the transplant list. Testing includes:

  • blood tests
  • diagnostic tests

Tests are done to gather information that will help determine how urgent it is that your child is placed on the transplant list, as well as to ensure the child receives a donor organ that is a good match. These tests analyze the general health of the body, including the child's heart, lung and kidney function, the child's nutritional status and the presence of infection. Blood tests improve the chances that the donor organ will not be rejected. These tests may include:

  1. Your child's blood type - Each person has a specific blood type: type A+, A-, B+, B-, AB+, AB-, O+ or O-. When receiving a transfusion, the blood received must be a compatible type with your child's own, or an allergic reaction will occur. The same allergic reaction will occur if the blood contained within a donor organ enters your child's body during a transplant. Allergic reactions can be avoided by matching the blood types of your child and the donor.
  2. Kidney, liver, and other vital organ function tests.
  3. Viral Studies - These tests determine if your child has antibodies to viruses that may increase the likelihood of rejecting the donor organ, such as cytomegalovirus (CMV).

Diagnostic tests are extensive but necessary to understand the complete medical status of your child. The following are some of the other tests that will be performed, although many of the tests are decided on an individual basis:

  1. Blood tests.
  2. Urine tests.
  3. Echocardiogram - A procedure that evaluates the structure and function of the heart by using sound waves, recorded on an electronic sensor, that produce a moving picture of the heart and heart valves.
  4. Electrocardiogram (ECG or EKG) - A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias) and detects heart muscle damage.
  5. Cardiac Catheterization - A procedure in which a small, thin tube (catheter) is guided through a vein or artery into the heart in order to view the heart and blood vessels. An iodine compound (a colorless, liquid "dye") is given through the catheter and moving X-ray pictures are made as the dye travels through the heart.
  6. Heart Biopsy - A procedure that takes a small tissue sample for examination.

The transplant team will consider all information from interviews, your child's medical history, physical examination and diagnostic tests in determining whether your child can be a candidate for heart transplantation. After the evaluation the transplant team meets to determine if your child is a good candidate. Once accepted by the team and once the family is fully educated about the risks and benefits, your child will be placed on the United Network for Organ Sharing (UNOS) list.

Treatment

Once an organ becomes available to your child, you and your child will immediately be called to the hospital. This call can occur at any time, so you should always be prepared to go to the hospital. Once at the hospital, the child will have final blood work and tests to confirm the match of the organ. The child will then go to the operating room. The transplant surgery may require several hours, but will vary greatly depending on each individual case. During the surgery, a member of the transplant team will keep you informed on the progress of the transplant. Powerful drugs (immunosuppressants) are used immediately after surgery and must be continued to prevent the body from rejecting the donor heart. Medications must be given for the rest of the child's life to fight rejection. Each child is unique, and each transplant team has preferences for different medications. Some of the anti-rejection medications most commonly used include the following:

  • cyclosporine
  • tacrolimus (Prograf)
  • mycophenolate mofetil
  • prednisone
  • azathioprine (Imuran)

Because anti-rejection medications affect the immune system, children who receive a transplant will be at higher risk for infections. A balance must be maintained between preventing rejection and making your child very susceptible to infection. Blood tests are performed periodically to measure the amount of medication in the body, to ensure your child does not get too much or too little of the medication. White blood cell counts also are an important indicator of how much medication your child needs. Rejection is a normal reaction of the body to a foreign object. When a new heart is placed in your child's body, the body sees the transplanted organ as a threat and tries to attack it. The immune system makes antibodies to try to destroy the new organ, not realizing that the transplanted heart is beneficial. To allow the organ to successfully live in a new body, medications must be given to trick the immune system into accepting the transplant and not thinking it is a foreign object. This risk of infection is especially great in the first few months, because higher doses of anti-rejection medicines are given during this time. Your child will most likely need to take medications to prevent other infections from occurring. Some of the infections your child will be especially susceptible to include oral yeast infections (thrush), herpes, and respiratory viruses. Children who have received a heart transplant will need life-long follow-up with physicians who are specialized in transplant medicine. Keeping appointments with your child's transplant physician, as well as maintaining contact with the transplant team when symptoms of rejection occur, is vital. Parents (and the recipient, when old enough) are the first line of defense; they must understand and recognize the symptoms of rejection, and report them as soon as possible to the transplant team.

Prognosis

Living with a transplant is a life-long process. Medications must be given that trick the immune system so it will not attack the transplanted organ. Other medications must be given to prevent side effects of the anti-rejection medications, such as infection. Frequent visits to and contact with the transplant team are essential. Knowing the symptoms of organ rejection (and watching for them on a daily basis) is critical. When the child becomes old enough, he/she will need to learn about anti-rejection medications (what they do and the signs of rejection), so he/she can eventually care for himself/herself independently. How long a child can be expected to live after a heart transplant is uncertain. Every child is different and every transplant is different. Results continually improve as physicians and scientists learn more about how the body deals with transplanted organs and search for ways to improve the success of transplantation.

Hypertrophic Cardiomyopathy

Description

"Cardiomyopathy" itself is a very general term referring to any condition (and there are many) importantly affecting the heart muscle itself while "hypertrophic cardiomyopathy" refers to a specific and genetic condition which usually shows a familial pattern. The most characteristic feature of HCM is a hypertrophied left ventricle (asymmetric thickening of the wall usually most prominently involving the ventricular septum) without abnormal enlargement of the ventricular cavities. The cause of Hypertrophic Cardiomyopathy is not yet known. In the majority of cases the condition is inherited. In others there is either no evidence of inheritance or there is insufficient information about the individual's family to assess inheritance. In affected families the condition usually passes from one generation to the next and generations are not skipped. The major abnormality of the heart in Hypertrophic Cardiomyopathy is an excessive thickening of the muscle. The distribution of muscle thickening or hypertrophy is variable. The left ventricle is almost always affected and in some patients the muscle of the right ventricle also thickens. The thickened muscle usually contracts well and ejects most of the blood from the heart. However the muscle in Hypertrophic Cardiomyopathy is often stiff and relaxes poorly, requiring higher pressures than normal to expand with the inflow of blood. The amount of blood which the heart can hold is therefore reduced and this in turn will limit the amount of blood which can be ejected with the next contraction.

Effects

There is no particular symptom or complaint which is unique to Hypertrophic Cardiomyopathy. The reason for the onset of symptoms is often not clear although they may occur at any stage in a person's life, even though the condition may have been present for some time. Symptoms may include: Shortness of Breath: Exercise capacity may be limited by breathlessness and fatigue. Most individuals experience only mild exercise limitation, but occasionally limitation is severe and a minority may have shortness of breath at rest. Chest Pain: Chest pain (sometimes called angina) is a common symptom. It is usually brought on by exertion and relieved by rest, but pain may occur at rest or during sleep and may persist. The cause of the pain is thought to be insufficient oxygen supply to the myocardium. In Hypertrophic Cardiomyopathy, the main coronary arteries are usually normal, but the greatly thickened muscle demands an increased oxygen supply which cannot be met in some circumstances. Palpatations: People may occasionally feel an extra beat or a skipped beat but this is usually normal. Sometimes, however, an awareness of the heart beating does suggest an irregular heart rhythm. In this case, palpitation may start suddenly, appear to be very fast and may be associated with sweating or light-headedness. The cause of such episodes should be determined and treated. Light-headedness/Blackouts: Persons with the condition may experience light-headedness, dizziness and, more seriously, blackouts. Episodes may occur in association with exercise, with palpitation, or without any apparent provocation. The reasons for these episodes are not always clear. They may be due to an irregularity of the heart beat, or a fall in blood pressure. Episodes of light-headedness and certainly a blackout should be reported to one's doctor and investigated.

Diagnosis

Although hypertrophy may be present at birth or in childhood, it is much more common for the heart to appear normal at this time. Occasionally, Hypertrophic Cardiomyopathy is the cause of a stillbirth. The condition can also develop during infancy, and if this is present with congestive heart failure it may be fatal. However, hypertrophy more commonly develops in association with growth and is usually apparent by the late teens or early twenties. After this time it appears that there is no significant change in muscle thickness in the years of adult life. Children and adolescents with the condition are usually identified when family screening is performed after an adult in the family is found to be affected. Of these adults approximately 50% will have experienced symptoms. In the remainder the diagnosis is made during family screening or following the detection of a murmur or an abnormality on routine electrocardiogram (ECG) and echocardiogram (ECHO) Hypertrophic Cardiomyopathy may be suspected because of symptoms, a murmur or an abnormal ECG. An individual with the condition may present with any of the symptoms described above but because such symptoms could be caused by a large number of other conditions, further tests are necessary. In Hypertrophic Cardiomyopathy the ECG usually shows an abnormal electrical signal due to muscle thickening and disorganization of the muscle structure. In a minority of patients (5-10%) the ECG may be normal or show only minor changes. The diagnosis of Hypertrophic Cardiomyopathy can also be made by an ultrasound scan of the heart called an echocardiogram or ECHO for short. Additional equipment called Doppler ultrasound can produce a color image of blood flow within the heart and measure the heart's contraction and filling. Turbulent flow can be detected. Therefore ECHO provides a very thorough assessment of Hypertrophic Cardiomyopathy. Additional investigations such as a cardiac catheterization, eletrophysiology study, coronary angiography, stress test, holter monitor or a radionuclide study may be required to assess symptoms, assess the risk of complications and to select the best treatment.

Treatment

At present there is no cure for Hypertrophic Cardiomyopathy although there is a slight possibility that some drugs may decrease the degree of muscle thickening. Regrettably, no treatment has yet been shown to return the heart to normal but research is continuing in this area. Developments are most likely to come from the early detection of persons carrying the gene for Hypertrophic Cardiomyopathy and from treating them to prevent the development of hypertrophy. Drug treatment or medication is primarily given when a person has some or all of the symptoms described earlier. The choice of treatment will vary from individual to individual but the common groups of drugs used are as follows: Beta-Blockers: Beta-blockers are drugs which slow the heart beat and reduce its force of contraction. These drugs usually relieve chest pain, breathlessness and palpitation. Beta-blockers are widely used in medical practice for other types of heart disease and for high blood pressure. Occasionally excessive heart rate slowing can cause fatigue. There are many beta-blockers: the most commonly used are Propranolol, Atenolol, Sotalol and Nadolol. Calcium Antagonists: The second major group of drugs used are the calcium antagonists or calcium channel blockers. Within this group Verapamil is the drug which has been most used in Hypertrophic Cardiomyopathy. It improves the filling of the heart by reducing the stiffness of the myocardium and, like beta blockers, reduces symptoms such as chest pain, breathlessness and palpitations. Also, like beta-blockers, Verapamil can cause excessive slowing of the heart rate and lower blood pressure. Anti-Arrhythmic Drugs: These drugs might be used when an arrhythmia such as ventricular tachycardia is detected and felt to be important in an individual case. Of these anti-arrhythmic drugs Amiodarone is the most commonly used in Hypertrophic Cardiomyopathy. It is an extremely effective drug and is most commonly used to reduce the risk of sudden death. However it does have several potential side effects, especially sensitivity to the sunlight (which can be avoided with use of barrier creams) and effects on the thyroid gland, which are reversible, but require regular testing. Other medications sometimes used are Anticoagulants, Diuretics and Antibiotics. Surgical myectomy (removal of muscle) is successful in the relief of symptoms. It is considered in individuals with severe symptoms despite drug treatment, in whom the left ventricular outflow tract narrowing causes obstruction of the blood flow. For a small minority, heart transplantation is necessary for those individuals who have a severe impairment of the pumping action of the heart.

Prognosis

For many people the condition should not interfere with their lifestyle in any way. Some individuals may have symptoms related to exertion and find that they cannot undertake as much physical work or recreation as other people of their age. Medical advice should be sought before undertaking physically demanding activities. Some persons may be advised not to take part in competitive sports or other strenuous physical effort. In general, symptoms, whether mild or considerable, tend to be stable throughout adult life. Some people experience a worsening of symptoms in later life and this may be due to a progressive stiffening of the heart muscle or, in rare cases, to a reduction in the force of contraction. The severity of symptoms and risk of complications varies greatly between patients but it should be emphasised that many people may never have any serious problems related to their condition. Each person, however, must be assessed and advised individually by their cardiologist.

Hypertrophic Cardiomyopathy

Description

"Cardiomyopathy" itself is a very general term referring to any condition (and there are many) importantly affecting the heart muscle itself while "hypertrophic cardiomyopathy" refers to a specific and genetic condition which usually shows a familial pattern. The most characteristic feature of HCM is a hypertrophied left ventricle (asymmetric thickening of the wall usually most prominently involving the ventricular septum) without abnormal enlargement of the ventricular cavities. The cause of Hypertrophic Cardiomyopathy is not yet known. In the majority of cases the condition is inherited. In others there is either no evidence of inheritance or there is insufficient information about the individual's family to assess inheritance. In affected families the condition usually passes from one generation to the next and generations are not skipped. The major abnormality of the heart in Hypertrophic Cardiomyopathy is an excessive thickening of the muscle. The distribution of muscle thickening or hypertrophy is variable. The left ventricle is almost always affected and in some patients the muscle of the right ventricle also thickens. The thickened muscle usually contracts well and ejects most of the blood from the heart. However the muscle in Hypertrophic Cardiomyopathy is often stiff and relaxes poorly, requiring higher pressures than normal to expand with the inflow of blood. The amount of blood which the heart can hold is therefore reduced and this in turn will limit the amount of blood which can be ejected with the next contraction.

Effects

There is no particular symptom or complaint which is unique to Hypertrophic Cardiomyopathy. The reason for the onset of symptoms is often not clear although they may occur at any stage in a person's life, even though the condition may have been present for some time. Symptoms may include: Shortness of Breath: Exercise capacity may be limited by breathlessness and fatigue. Most individuals experience only mild exercise limitation, but occasionally limitation is severe and a minority may have shortness of breath at rest. Chest Pain: Chest pain (sometimes called angina) is a common symptom. It is usually brought on by exertion and relieved by rest, but pain may occur at rest or during sleep and may persist. The cause of the pain is thought to be insufficient oxygen supply to the myocardium. In Hypertrophic Cardiomyopathy, the main coronary arteries are usually normal, but the greatly thickened muscle demands an increased oxygen supply which cannot be met in some circumstances. Palpatations: People may occasionally feel an extra beat or a skipped beat but this is usually normal. Sometimes, however, an awareness of the heart beating does suggest an irregular heart rhythm. In this case, palpitation may start suddenly, appear to be very fast and may be associated with sweating or light-headedness. The cause of such episodes should be determined and treated. Light-headedness/Blackouts: Persons with the condition may experience light-headedness, dizziness and, more seriously, blackouts. Episodes may occur in association with exercise, with palpitation, or without any apparent provocation. The reasons for these episodes are not always clear. They may be due to an irregularity of the heart beat, or a fall in blood pressure. Episodes of light-headedness and certainly a blackout should be reported to one's doctor and investigated.

Diagnosis

Although hypertrophy may be present at birth or in childhood, it is much more common for the heart to appear normal at this time. Occasionally, Hypertrophic Cardiomyopathy is the cause of a stillbirth. The condition can also develop during infancy, and if this is present with congestive heart failure it may be fatal. However, hypertrophy more commonly develops in association with growth and is usually apparent by the late teens or early twenties. After this time it appears that there is no significant change in muscle thickness in the years of adult life. Children and adolescents with the condition are usually identified when family screening is performed after an adult in the family is found to be affected. Of these adults approximately 50% will have experienced symptoms. In the remainder the diagnosis is made during family screening or following the detection of a murmur or an abnormality on routine electrocardiogram (ECG) and echocardiogram (ECHO) Hypertrophic Cardiomyopathy may be suspected because of symptoms, a murmur or an abnormal ECG. An individual with the condition may present with any of the symptoms described above but because such symptoms could be caused by a large number of other conditions, further tests are necessary. In Hypertrophic Cardiomyopathy the ECG usually shows an abnormal electrical signal due to muscle thickening and disorganization of the muscle structure. In a minority of patients (5-10%) the ECG may be normal or show only minor changes. The diagnosis of Hypertrophic Cardiomyopathy can also be made by an ultrasound scan of the heart called an echocardiogram or ECHO for short. Additional equipment called Doppler ultrasound can produce a color image of blood flow within the heart and measure the heart's contraction and filling. Turbulent flow can be detected. Therefore ECHO provides a very thorough assessment of Hypertrophic Cardiomyopathy. Additional investigations such as a cardiac catheterization, eletrophysiology study, coronary angiography, stress test, holter monitor or a radionuclide study may be required to assess symptoms, assess the risk of complications and to select the best treatment.

Treatment

At present there is no cure for Hypertrophic Cardiomyopathy although there is a slight possibility that some drugs may decrease the degree of muscle thickening. Regrettably, no treatment has yet been shown to return the heart to normal but research is continuing in this area. Developments are most likely to come from the early detection of persons carrying the gene for Hypertrophic Cardiomyopathy and from treating them to prevent the development of hypertrophy. Drug treatment or medication is primarily given when a person has some or all of the symptoms described earlier. The choice of treatment will vary from individual to individual but the common groups of drugs used are as follows: Beta-Blockers: Beta-blockers are drugs which slow the heart beat and reduce its force of contraction. These drugs usually relieve chest pain, breathlessness and palpitation. Beta-blockers are widely used in medical practice for other types of heart disease and for high blood pressure. Occasionally excessive heart rate slowing can cause fatigue. There are many beta-blockers: the most commonly used are Propranolol, Atenolol, Sotalol and Nadolol. Calcium Antagonists: The second major group of drugs used are the calcium antagonists or calcium channel blockers. Within this group Verapamil is the drug which has been most used in Hypertrophic Cardiomyopathy. It improves the filling of the heart by reducing the stiffness of the myocardium and, like beta blockers, reduces symptoms such as chest pain, breathlessness and palpitations. Also, like beta-blockers, Verapamil can cause excessive slowing of the heart rate and lower blood pressure. Anti-Arrhythmic Drugs: These drugs might be used when an arrhythmia such as ventricular tachycardia is detected and felt to be important in an individual case. Of these anti-arrhythmic drugs Amiodarone is the most commonly used in Hypertrophic Cardiomyopathy. It is an extremely effective drug and is most commonly used to reduce the risk of sudden death. However it does have several potential side effects, especially sensitivity to the sunlight (which can be avoided with use of barrier creams) and effects on the thyroid gland, which are reversible, but require regular testing. Other medications sometimes used are Anticoagulants, Diuretics and Antibiotics. Surgical myectomy (removal of muscle) is successful in the relief of symptoms. It is considered in individuals with severe symptoms despite drug treatment, in whom the left ventricular outflow tract narrowing causes obstruction of the blood flow. For a small minority, heart transplantation is necessary for those individuals who have a severe impairment of the pumping action of the heart.

Prognosis

For many people the condition should not interfere with their lifestyle in any way. Some individuals may have symptoms related to exertion and find that they cannot undertake as much physical work or recreation as other people of their age. Medical advice should be sought before undertaking physically demanding activities. Some persons may be advised not to take part in competitive sports or other strenuous physical effort. In general, symptoms, whether mild or considerable, tend to be stable throughout adult life. Some people experience a worsening of symptoms in later life and this may be due to a progressive stiffening of the heart muscle or, in rare cases, to a reduction in the force of contraction. The severity of symptoms and risk of complications varies greatly between patients but it should be emphasised that many people may never have any serious problems related to their condition. Each person, however, must be assessed and advised individually by their cardiologist.

Hypoplastic Left Heart Syndrome

Description

Hypoplastic left heart syndrome (HLHS) is a serious problem that involves several parts of the left side of the heart. It is quite rare and occurs in about 1 out of every five thousand babies born. In the United States, about 1000 babies with HLHS are born each year. Two thirds of the babies affected are boys. Most babies with HLHS are otherwise healthy but some have other medical problems including other heart problems, neurologic problems, and Turner's syndrome. In this condition, for unknown reasons, the left side of the heart does not develop properly while the baby is in the mother's womb. The parts of the heart that are usually affected are the mitral valve, the left ventricle, the aortic valve, and the aorta. In the normal heart, red blood returning from the lungs, flows from the heart's left upper chamber called the left atrium through the mitral valve to the left ventricle where it is pumped through the aortic valve and out to the body. In babies with HLHS, the left side of the heart is underdeveloped and cannot pump enough blood to meet the body's needs. Without treatment, 95% of babies with HLHS die within the first month of life. Treatment means either three heart surgeries during the first two years of life or a heart transplant. Due to dramatic improvements in surgery and medical care, many children born with HLHS now do very well. However, these treatments involve many stressful experiences and risks. The treatments are not a "cure" and the children will need expert medical attention for the rest of their lives.

Effects

Like most heart defects, HLHS does not have an adverse affect until after the baby is born. Prior to birth, the baby's oxygen comes from the mother and the baby's lungs are filled with fluid. Blood pumped from the baby's right side of the heart bypasses the lungs by flowing through a blood vessel called a patent ductus arteriosus. Usually, one to two days after birth, this vessel closes. In a baby with HLHS, closure of the ductus arteriosus removes the baby's means of supplying blood to the body and results in shock and death. If the diagnosis of HLHS is made, a medicine given through the vein called prostaglandin is used to keep the ductus arteriosus from closing until the time of surgery. See the sections on heart transplantation and three stage surgical repair for information on health outcomes after treatment. Participation in physical activities and sports: Children who undergo surgical repair of HLHS can participate in recreational physical activities but are restricted from competitive and vigorous athletic activities.

Diagnosis

Prenatal diagnosis: The diagnosis of HLHS is made by an echocardiogram or ultrasound of the baby's heart and can be made as early as 16 weeks into the pregnancy. An echocardiogram of the heart is done when a possible problem is identified during a routine prenatal ultrasound or because of a family history of congenital heart disease. Left sided heart problems tend to recur in families where one child is affected. Estimates of having another child affected range from 4.5 to 13% (Boughman et al. 1993, Brenner et al. 1989). If there is a family history or if concern is raised during a routine ultrasound, the family is referred to a pediatric cardiology center where a detailed ultrasound of the heart is performed. Clinical features: Most newborns with HLHS have mild heart related symptoms until the patent ductus arteriosus closes. This usually occurs within 48 hours of birth. Prior to closure of the ductus arteriosus, the baby's lips or fingernails may look slightly blue, especially when the baby cries. Babies with HLHS often breathe fast, have low energy levels, and/or have feeding problems. These changes can be subtle and can be difficult to detect in a newborn baby. When the ductus arteriosus does close, the baby may get very ill very quickly and develop symptoms of shock Physical findings: The presence of a heart murmur, mild cyanosis (blue color from low oxygen levels in the blood), fast heart rate, and fast breathing rate are the first clues that an infant has HLHS. Medical tests: The first tests often ordered are an electrocardiogram, chest x-ray and oxygen saturation test. The electrocardiogram may show decreased left-sided forces. The oxygen level in the blood is usually a little low. The chest x-ray often shows a bigger than normal heart and extra blood flow to the lungs. The gold standard for diagnosis is an echocardiogram. Cardiac catheterization is done if there are any questions not clearly answered by the echocardiogram.

Treatment

Treatment of HLHS means either a three-staged surgical repair or heart transplantation. Three-stage surgical repair for HLHS The surgical repair for HLHS is a series of three heart operations done during the first two years of life. The goal of these operations is to rebuild the heart so that the right side can be used to pump blood out to the body. The first operation is done during the first week of life, the second one is done when the child is four to six months old, and the last one is done when the child is about two years old. In addition to the three operations, two or three heart catheterizations must be done. A heart catheterization is a heart test that is done by a cardiologist with the help of cardiovascular technicians. Soft, thin plastic catheters (tubes) are placed in the large blood vessels in the leg and threaded carefully to the heart. The catheters are used to take pressure measurements inside the heart and to inject contrast or dye so pictures of the heart can be taken. Overall, this is a very safe test and children can go home the same day. Heart transplantation is one option for treatment of children with hypoplastic left heart syndrome and remains an option even after staged surgical repair. Heart transplantation means that the heart from a child who died is removed and used to replace the defective heart in someone with a very serious heart problem. The first heart transplant was done in an adult in 1967. While early results were encouraging, most people died within one or two years after transplantation because the immune system rejected the new heart. In the early 1980’s, a new anti-rejection drug called cyclosporine became available and proved to be very effective in preventing rejection of transplanted hearts as well as other transplanted organs. In 1985, Dr. Leonard Bailey at Loma Linda University demonstrated that heart transplantation could be successfully done in infants with HLHS and other serious heart problems. Heart transplantation offers advantages and disadvantages in the treatment of children with HLHS. Unlike children who undergo the three stage reconstructive approach, children who undergo transplant need one operation during early childhood that results in a "normal heart", that is, a heart with four chambers that pumps in the normal way. The risks associated with the operation itself are quite low at most major centers. Operative risk with the three stage surgeries varies considerably across institutions and in some centers it is very high. Disadvantages of heart transplantation include the lack of availability of donated hearts of a size suitable for an infant. Due to the numbers of children awaiting heart transplantation and the lack of availability, about 10-25% of children die awaiting transplantation. Other concerns include side effects from the life long need for anti-rejection medications, growth problems, and early onset coronary artery disease. Also, low-grade rejection is almost inevitable so that the average "lifespan" of a transplanted heart is about ten years.

Prognosis

The outlook for children with HLHS has improved dramatically. While once uniformly fatal (with 95% mortality by one month of age) survival at 3 to 5 years of age is now about 60%. Most children enjoy a good quality of life without significant developmental problems Although the outlook has improved, decision-making about treatment is difficult due to the potential for suffering and distress associated with multiple surgeries and heart catheterizations and high medical costs, particularly in light of an uncertain long term outlook for the children. Our experience so far indicates that most children will reach adulthood in good health. Some children will need other surgical procedures such as a pacemaker for abnormal heart rhythms. Some children will need a heart transplant at some point in the future. Children are restricted from competitive sports and from very demanding physical activities but can otherwise do all the things that children enjoy doing. Overall, it is expected that these children have a good quality of life: have friends, play, and go to school just like other children.

Mitral Valve Regurgitation

Description

Mitral valve regurgitation means that one of the valves in your heart-the mitral valve-is letting blood leak backward into the heart. Heart valves work like one-way gates, helping blood flow in one direction between heart chambers or in and out of the heart. The mitral valve is on the left side of your heart. It lets blood flow from the upper to lower heart chamber. When the mitral valve is damaged-for example, by an infection-it may no longer close tightly. This lets blood leak backward, or regurgitate, into the upper chamber. Your heart has to work harder to pump this extra blood. Small leaks are usually not a problem. But more severe cases weaken the heart over time and can lead to heart failure. There are two forms of mitral valve regurgitation: chronic and acute. Chronic mitral valve regurgitation, the most common type, develops slowly. Many people with this problem may have a valve that is prone to wear and tear. As the person gets older, the valve gets weak and no longer closes tightly. Other causes include heart failure, rheumatic fever, congenital heart disease, a calcium buildup in the valve, and other heart problems. Acute mitral valve regurgitation develops quickly and can be life-threatening. It happens when the valve or nearby tissue ruptures suddenly. Instead of a slow leak, blood builds up quickly in the left side of the heart. Your heart doesn't have time to adjust to this sudden buildup of blood the way it does with the slow buildup of blood in chronic regurgitation. Common causes of acute regurgitation are heart attack and a heart infection called endocarditis.

Effects

If you have mild to moderate chronic mitral valve regurgitation, you may never have symptoms. If you have moderate to severe disease, you may not have symptoms for decades. If your heart weakens because of your mitral valve, you may start to have symptoms of heart failure. Call your doctor if you have any of these symptoms: Shortness of breath with activity, which later develops into shortness of breath at rest and at night. Extreme tiredness and weakness. A buildup of fluid in the legs and feet, called edema. Acute mitral valve regurgitation is an emergency. Symptoms come on rapidly and include severe shortness of breath at rest, coughing, and fast heartbeat.

Diagnosis

Because you may not have symptoms, a specific type of heart murmur may be the first sign your doctor notices. Further tests will be needed to check your heart. Tests may include: Echocardiograms, which use ultrasound to see how serious the valve problem is. An electrocardiogram (EKG) to look for abnormal heart rhythms. A chest X-ray to check heart size. Cardiac catheterization to see how serious the problem is and to look for coronary artery disease. Tests for acute regurgitation may include one or more of these same tests, as well as a transesophageal echocardiogram. In this test, a sound-wave device is passed down the esophagus to take clearer pictures of the heart.

Treatment

Treatment for chronic cases includes regularly checking your heart to make sure it is working properly. Treatment also includes preventing infection and treating symptoms as they develop. Your doctor may have you take medicines, including: Vasodilators, usually ACE inhibitors, to help widen blood vessels and help the heart work better. Diuretics to treat symptoms of heart failure and reduce the workload on your heart. Anticoagulants, such as warfarin (Coumadin), to prevent blood clots if you also have a heart rhythm problem called atrial fibrillation. Beta-blockers, calcium channel blockers, or antiarrhythmics, to control heart rate. Antibiotics, taken before dental work or surgery, to prevent infections. You may need surgery to repair or replace your mitral valve if you get symptoms of heart failure, if the size of your left ventricle (your heart's main pumping chamber) increases, or if your heart weakens. Some doctors believe it's best to repair or replace the valve before you develop severe symptoms because it leads to better long-term health. On the other hand, surgery is a major procedure that has its own risks and complications. Even if you have no symptoms, talk to your doctor about the benefits of surgery, as well as your heart's condition, your age, and your overall health. Treatment for acute mitral valve regurgitation occurs while you are in the hospital or the emergency room. Because heart failure usually occurs with acute regurgitation, vasodilators are given by IV. You need surgery right away to repair or replace the valve. If you have chronic mitral valve regurgitation, your doctor may want you to make some lifestyle changes to ease the load on your heart. You may need to be careful about physical activity. Talk to your doctor before starting an exercise program. If you have a physically demanding job, you may need to change careers. You may need to cut down on salt in your diet.

Prognosis

You may need to take one or more medicines, such as an ACE inhibitor to help your heart work better, or a diuretic to ease the load on your heart. It is important to watch for symptoms of heart failure; they may mean that your heart is weakening and your valve problem is getting worse. Symptoms of heart failure include shortness of breath, being very tired, and swelling in your feet and ankles. If you have these symptoms, call your doctor. Small valve leaks are usually not a problem. But if you have heart failure symptoms, or if you have a sudden leak, you may need surgery to repair or replace the valve. Finding out that something is wrong with your heart is scary. You may feel depressed and worried. This is a common reaction. Sometimes it helps to talk to others who have similar problems. Ask your doctor about support groups in your area.

Mitral Valve Stenosis

Description

Mitral valve stenosis, or mitral stenosis is a condition in which the mitral valve narrows. This narrowing causes the valve to not open properly and to obstruct blood flow between the left upper and lower chambers of your heart. When the mitral valve is narrowed (stenotic), blood can't efficiently move through your heart and out to the rest of your body. The condition can leave you fatigued, dizzy and short of breath. One of the main causes of mitral stenosis is a childhood infection called Rheumatic Fever, which is related to strep infections. Rheumatic fever, once common in the United States and still prevalent in developing countries can lead to scarring of the mitral valve. A defective heart valve is one that fails to either open or close fully. When a valve doesn't close tightly, blood can flow backward. This backward flow through a valve is called regurgitation. When a valve becomes narrowed (stenotic) and flow through it is limited.

  • Rheumatic fever. A complication of strep throat can damage the mitral valve, leading to mitral stenosis later in life. Rheumatic fever can damage the mitral valve in two main ways. The infection may cause the leaflets of the valve to thicken, limiting the valve's ability to open. Or the infection may cause the leaflets of the mitral valve to fuse somewhat together, preventing the valve from closing tightly and leading to regurgitation or backward flow of blood. People with rheumatic fever may have both mitral stenosis and regurgitation.
  • Congenital heart defect. Some babies are born with a narrowed mitral valve and develop mitral stenosis early in life. Babies born with this problem usually require heart surgery to correct the valve. Others are born with a malformed mitral valve that puts them at risk of developing mitral stenosis when they're older.
  • Other causes are growths, blood clots or tumors that can block the mitral valve, mimicking mitral stenosis. Some medications, such as appetite suppressants and medications that treat migraines may cause thickening of the mitral valve, which can lead to mitral stenosis. As you age, excessive calcium deposits can build up around the mitral valve, which sometimes causes significant mitral stenosis. In most cases, doctors don't know why a heart valve has failed to develop properly in a newborn, infant or child. It's not something that you could have prevented.
Effects

You can have mitral stenosis and feel well, or have only minimal effects on you body, for years. However, mild problems can suddenly get worse. See your doctor if you develop any signs and symptoms of mitral stenosis, which can include:

  • Fatigue, especially during times of increased activity
  • Shortness of breath, especially with exertion or when you lie down
  • Edema (swelling) of the feet or ankles
  • Heart palpitations
  • Dizziness or black out spells
  • Frequent respiratory infections, such as bronchitis
  • Heavy coughing, sometimes with blood-tinged sputum
  • Chest discomfort or chest pain

Signs and symptoms of mitral stenosis may resemble those of other heart or heart valve conditions and may appear or worsen anytime you increase your heart rate, such as during exercise, stress or activities of daily living. An episode of tachycardia (rapid heartbeats) may accompany these signs and symptoms. They may also be triggered by pregnancy or other stress on your body such as a respiratory infection or heart infection. Signs and symptoms of mitral stenosis commonly include those of congestive heart failure — a complication of mitral stenosis and other heart problems. Congestive heart failure is a condition in which your heart can't pump sufficient blood to your body, leaving you fatigued. Signs and symptoms of mitral stenosis usually develop between the ages of 20 and 50, but they can occur at any age — even during infancy. Depending on the amount of narrowing, an infant or a child with mitral stenosis may have no symptoms, may tire easily or may have shortness of breath with vigorous physical activity. Mitral stenosis may also produce a number of signs that only your doctor will be able to find. These may include:

  • Heart murmur
  • Lung congestion
  • Irregular heart rhythms (arrhythmias)
  • Pulmonary hypertension
  • Blood clots
Diagnosis

As part of a physical examination the cardiologist will carefully listen to the heart and lungs through a stethoscope. Mitral stenosis causes an abnormal rumbling heart sound, called a heart murmur. Normal heart valves open silently to permit the flow of blood. A narrowed mitral valve can make a distinct snapping sound followed by a rumbling murmur. From the initial examination the doctor decides which tests to request to make a diagnosis. Common tests to diagnose mitral stenosis include:

  • Electrocardiogram (ECG). In this test, patches with wires (electrodes) are attached to the skin to measure the electrical impulses given off by the heart. Impulses are recorded as waves displayed on a monitor or printed on paper. An ECG can give information about the heart rhythm and, indirectly, heart size. With mitral stenosis, some parts of the heart may be enlarged and may have have an irregular rhythm called atrial fibrillation.
  • Holter monitoring. A Holter monitor is a portable device that can be worn to record a continuous ECG, usually for 24 to 72 hours. Holter monitoring is used to detect intermittent heart rhythm irregularities that may accompany mitral stenosis.
  • Chest X-ray. An X-ray image of your chest allows the doctor to check the size and shape of the heart to determine whether the left atrium is enlarged, a possible indicator of mitral stenosis. A chest X-ray also helps the doctor check the condition of the lungs. Mitral stenosis may lead to blood backing up in the lungs, which causes pulmonary congestion that's visible on an X-ray.
  • Echocardiogram. This test uses sound waves to produce an image of the heart. In an echocardiogram, sound waves are directed at the heart from a wand-like device (transducer) held on the chest. Sound waves bounce off the heart and are reflected back through the chest wall and processed electronically to provide video images of the heart in motion. An echocardiogram helps the doctor closely examine the mitral valve. The image shows the structure of the mitral valve and how it moves during the beating of the heart. With an echocardiogram, the doctor can also measure the speed and direction of blood flow through the heart.
  • Transesophageal echocardiogram (TEE). This type of echocardiogram allows an even closer look at the mitral valve. The esophagus, the digestive tube that runs from the throat to the stomach, lies close to the heart. In a traditional echocardiogram (as described above), a transducer is moved across the chest to view the heart. But in a transesophageal echocardiogram, a small transducer attached to the end of a tube and is inserted down the esophagus which lies close to the heart. Having the transducer there so close to the heart provides a clearer picture of the mitral valve and blood flow through it.
  • Cardiac catheterization. In this procedure the doctor inserts a thin tube (catheter) through an artery in the arm or groin and threads it up into the heart. A dye is then injected through the catheter and fills the heart's arteries. The arteries become visible on an X-ray. This test gives the doctor detailed information about the health of the heart. Some catheters used in cardiac catheterization have miniature devices (sensors) at the tips that can measure pressure within heart chambers, such as the left atrium. Cardiac tests such as these help the doctor distinguish mitral stenosis from other heart conditions, including other problems of the mitral valve. Mitral regurgitation is a condition in which the mitral valve doesn't close tightly. Mitral valve prolapse is a disorder in which the mitral valve sags instead of closes tightly. These conditions may also require treatment.

If your child receives a diagnosis of mitral stenosis, these tests will also help reveal the cause, determine how serious the problem is, and determine whether the mitral valve can be repaired or if replacement may be necessary.

Treatment

Drug therapy such as Beta Blockers, Calcium Channel Blockers and Digoxin may help to slow the heart rate, strengthen the heart beat, and control abnormal heart rhythm. A drug that prevents abnormal blood clotting (anticoagulant) called warfarin (Coumadin) may be recommended. If drug therapy does not produce satisfactory results, valve repair or replacement may be necessary. Repair can be accomplished in two ways. In the first method, balloon valvuloplasty, in which the doctor will try to stretch the valve opening by threading a thin tube (catheter) with a balloon tip through a vein and into the heart. Once the catheter is positioned in the valve, the balloon is inflated, separating the fused areas. The second method involves opening the heart and surgically separating the fused areas. If the valve is damaged beyond repair, it can be replaced with a mechanical valve or one that is partly mechanical and partly made from a pig's heart. Left unchecked, mitral stenosis can lead to serious heart complications such as:

  • Congestive heart failure
  • Heart enlargement
  • Atrial fibrillation
  • Blood clots
  • Lung congestion
Prognosis

Procedures available to treat mitral valve stenosis, whether medical or surgical, all produce effective results. When treated early, the prognosis for mitral valve stenosis is good. Similarly, the prognosis for valve surgeries and even transplant are good.

Myocarditis

Description

The normal heart is a four-chamber pump. The heart walls are made of muscle cells that respond to the heart’s electrical impulse by briskly contracting (shortening). Myocarditis causes swelling and damage of the heart muscle cells and thus impairs their ability to contract. If the damage is mild, the heart has enough reserve so that no symptoms occur. If severe, the heart is unable to pump enough blood to meet the body’s needs and symptoms of congestive heart failure occur. The heart rhythm is under the control of the heart’s electrical system. Cell damage caused by myocarditis can be a source of abnormal heart rhythms including heart block, ventricular tachycardia, and/or ventricular fibrillation.

Effects

The health effects of myocarditis vary widely and depend on the degree of the muscle damage. If mild, there may be no symptoms or only symptoms with exercise. If the heart is unable to pump enough blood to meet the body’s needs, symptoms of congestive heart failure will occur. Myocarditis can also be associated with abnormal heart rhythms including atrial flutter, atrial fibrillation, heart block, and ventricular tachycardia. If symptoms occur, these can resolve, remain stable, or worsen over time to the degree that a heart transplant is needed.

Diagnosis

Symptoms: Possible symptoms include palpitations (heart racing or "skipping" heart beats), low energy levels, and low exercise tolerance. Symptoms of congestive heart failure also include rapid breathing, clammy sweating, poor appetite, poor weight gain in young children, and swelling around the eyes, hand, and feet (more common in older children and young adults). Physical findings: The exam depends on the degree of heart damage. If the heart is only mildly affected, the exam may be normal. If there is congestive heart failure, the heart rate and breathing rate are often fast. There may be a heart murmur (sound made by abnormal backward flow through the mitral valve) or other extra heart sounds, and the liver may be enlarged. Medical tests: An echocardiogram is one of the first tests done and provides useful data about the severity of the problem. The diagnosis may be confirmed by a heart biopsy done during heart catheterization. If an infection is felt to be the cause of the myocarditis, blood cultures or other special blood tests may be help identify the causative organism. Other heart tests include an electrocardiogram (ECG), Holter monitor, and chest x-ray.

Treatment

The mainstay of treatment is rest. Heart medicines such as digoxin, lasix, aldactone and captopril or enalapril are used to treat symptoms of congestive heart failure. If the cause is bacterial, antibiotics are used. A short course of steroids or other drugs that decrease the immune response may be used if the usual treatment is not helpful or if heart block occurs. Long-term therapy depends on the degree of residual heart damage and the presence of abnormal heart rhythms.

Prognosis

The long-term outlook depends largely on the degree of residual heart damage. In about one third of children, the problem resolves completely within about 6 months. In one third, the problem remains stable, and in one-third the symptoms progress and more intensive treatment is needed. If there is severe heart damage that does not respond to treatment, a heart transplant may be needed. SBE prophylaxis: Children with myocarditis are at increased risk for subacute bacterial endocarditis (SBE) if valve leakage occurs. SBE is an infection of the heart caused by bacteria in the blood stream. Children with heart valve leakage are more prone to this problem because of the altered flow of blood through the heart. SBE can occur after dental work and some other medical procedures because they almost always result in bacteria entering the blood. SBE can usually be prevented by taking an antibiotic before these procedures. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Rest is needed during the initial phases of myocarditis. Afterwards, exercise guidelines are based on the degree of residual heart damage.

Patent Ductus Arteriosis

Description

While a baby is in the womb, the mother provides oxygen and the baby's lungs are filled with fluid. Blood flow during this time bypasses the lungs through a blood vessel that connects the pulmonary artery with the aorta. This blood vessel is called the ductus arteriosus. When it remains open after birth it is called a patent ductus arteriosus (PDA). In most babies it remains open for a short period of time after birth but 90% will be closed by 8 weeks of age. Most of the rest will close during the first year of life. While the baby is in the womb, the fluid in the lungs causes high pressure so blood entering the pulmonary artery takes the path of least resistance bypassing the lungs and flowing out to the aorta through the ductus arteriosus. After birth, the lungs fill with oxygen so the pressure in lungs and the pulmonary artery goes down. At the same time, the umbilical cord is clamped and the pressure in the aorta increases. As a result, the pressure in the pulmonary artery is lower than the pressure in the aorta so some of the blood in the aorta flows through the ductus back to the lungs. This results in extra blood flow to the lungs. If the ductus is small, the extra blood flow is minimal but if the ductus is large, there can be a large amount of blood returning to the lungs causing a significant increased workload for the heart.

Effects

The effects of patent ductus arteriosus relate largely to the size of the ductus. Babies born very prematurely are more sensitive to the extra pulmonary blood flow so are more likely to have heart related symptoms. If the extra blood flow taxes the heart too much, symptoms of congestive heart failure develop. This is not uncommon in premature infants but is quite rare in full term infants or older children. Symptoms of congestive heart failure include rapid breathing, feeding problems, slow weight gain, low energy, and cold, clammy sweating. If the PDA remains large, over time the extra blood flow damages the pulmonary artery and they become stiff and thickened. This condition, called pulmonary vascular disease is a very serious problem for which there is currently no effective treatment. Children with patent ductus arteriosus are also at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. It can occur after a dental or other medical procedure but can usually be prevented by a dose of antibiotic prior to the procedure. Children with small PDAs are at even greater risk for SBE than children with large PDAs. For this reason, many doctors recommend closure of even small PDAs. Exercise recommendations: Exercise recommendations are best made by a patient's doctor so that all relevant factors can be included in the decision. In general, exercise restrictions for patients with patent ductus arteriosus are not necessary and children can participate in competitive and vigorous athletic activities.

Diagnosis

Clinical findings: Most children with PDA do not have heart related symptoms. If the ductus is large in size, symptoms of congestive heart failure may develop. Congestive heart failure can develop at any time but more commonly presents during the first 2 to 3 months of life. The symptoms include rapid breathing, poor feeding, slow growth, and cold, clammy sweating. Physical findings: A heart murmur is often the only clue that a child has a PDA. If the child is in congestive heart failure, there will be poor weight gain, the heart rate and breathing rate will be higher than normal, and the liver will be enlarged. Medical tests: Medical tests that provide helpful information include an electrocardiogram, oxygen saturation test, and chest x-ray. The diagnosis is confirmed by an echocardiogram.

Treatment

As described earlier, small PDAs do not cause symptoms so generally treatment (other than SBE prophylaxis) is not needed. Many children will have spontaneous closure of the ductus during the first year of life. If the child develops congestive heart failure medications may be prescribed including digoxin and/or diuretics. These medications often control the symptoms until the child gets bigger and the PDA gets smaller or closes altogether. If the patent ductus does not close spontaneously by one or two years of age or if there are symptoms of congestive heart failure that are not controlled by medication, closure of the defect is recommended. Closure of very small or "silent" patent ductus arteriosus may also be recommended to reduce the risk for bacterial endocarditis. Treatment options include closure via heart catheterization or surgical closure. A medicine called indomethacin is often used to close the ductus in premature infants. Transcatheter closure of patent ductus arteriosus: Transcatheter closure has proven to be an excellent treatment option for children with patent ductus arteriosus. First reported in 1967, this procedure is done in the heart catheterization laboratory with conscious sedation and avoids the need for surgery. During the procedure, catheters (thin plastic tubes) are placed into the large blood vessels in the legs and gently guided to the heart. These catheters are used to deposit small metal coils within the ductus. The coils obstruct blood flow through the vessel, in part by stimulating the development of a blood clot at the site. This procedure achieves an excellent result in most patients. Complications are rare and include bleeding, infection, and early dislodgment of the coil. If the coil dislodges it can usually be retrieved at the time of the procedure and repositioned or replaced with a larger size coil. The procedure is done as an outpatient and children can resume all activities within 48 hours. Surgical closure of patent ductus arteriosus: Surgical results are also excellent. Surgery is the preferred treatment for a large PDA and/or if closure is required during infancy. It is done through a small incision between the ribs on the left side. The ductus is identified and either tied off or divided. Surgical complications are rare and include hoarseness or paralyzed diaphragm, infection, bleeding, and accumulation of fluid around the lungs. Most children go home two or three days after the surgery.

Prognosis

The outlook for these patients is excellent as long as treatment is initiated soon enough to prevent pulmonary vascular obstructive disease. Possible long-term complications include coarctation (narrowing of the aorta) or recurrence of the vessel although both problems are extremely rare.

Pulmonary Atresia

Description

Pulmonary atresia (PA) is a complicated congenital (present at birth) defect that occurs when the pulmonary valve, located between the right ventricle and pulmonary artery, is not formed properly. The pulmonary valve has three leaflets that function like a one-way door, allowing blood to flow forward into the pulmonary artery, but not backward into the right ventricle. With pulmonary atresia, problems with valve development prevent the leaflets from opening, therefore, blood cannot flow forward from the right ventricle to the lungs. Before birth, while the fetus is developing, this is not a threat to life, because the placenta provides oxygen for the baby, and the lungs are not functional. Blood entering the right side of the fetal heart passes through an opening called the foramen ovale, which allows oxygen-rich (red) blood to pass through to the left side of the heart and proceed to the body. In some cases, there may be a second opening, this time in the ventricular wall, that allows blood in the right ventricle a way out. This opening is called a ventricular septal defect (VSD). If there is no VSD, the right ventricle receives little blood flow before birth and does not develop fully. After birth, the placenta no longer provides oxygen for the newborn, the lungs must provide it. With no pulmonary valve opening present, however, blood must find another route to reach the lungs and receive oxygen. The foramen ovale normally shuts at birth, but may stay open in this situation, allowing oxygen-poor (blue) blood to pass from the right atrium to the left atrium. From there, it goes to the left ventricle, out the aorta, to the body. This situation cannot support life, since oxygen-poor (blue) blood cannot meet the body's demands. Newborns also have a connection between the aorta and the pulmonary artery, called the ductus arteriosus, that allows some of the oxygen-poor (blue) blood to pass into the lungs. Unfortunately, this ductus arteriosus normally closes within a few hours or days after birth. Because of the low amount of oxygen provided to the body, pulmonary atresia is a heart problem that is labeled "blue-baby syndrome." Pulmonary atresia occurs in about one out of every 10,000 live births. Pulmonary atresia occurs due to the improper development of the heart during the first eight weeks of fetal growth. Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality or environmental exposure, causing heart problems to occur more often in certain families. Most of the time, this heart defect occurs sporadically (by chance), with no clear reason for its development.

Effects

Symptoms will be noted shortly after birth. The obvious indication of PA is a newborn who becomes cyanotic (blue) in the transitional first day of life, when the maternal source of oxygen (from the placenta) is removed. The degree of cyanosis is related to the presence of other defects that allow blood to mix, including a patent ductus arteriosus. The following are the most common symptoms of pulmonary atresia. Each child, however, may experience symptoms differently. Symptoms may include: • rapid breathing • difficulty breathing • irritability • lethargy • pale, cool or clammy skin The symptoms of pulmonary atresia may resemble other medical conditions or heart problems. Always consult your child's physician for a diagnosis.

Diagnosis

A pediatric cardiologist and/or a neonatologist may be involved in your child's care. A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood. A neonatologist specializes in illnesses affecting newborns, both premature and full-term. Cyanosis is a major indication that there is a problem with your newborn. Your child's physician have may also heard a heart murmur during a physical examination. A heart murmur is simply a noise caused by the turbulence of blood flowing through the openings that allow the blood to mix. Other diagnostic tests are needed to help with the diagnosis, and may include the following: Chest X-ray —A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones and organs onto film. Electrocardiogram (ECG or EKG) — A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias) and detects heart muscle stress. Echocardiogram (echo) — A procedure that evaluates the structure and function of the heart by using sound waves, recorded on an electronic sensor, that produce a moving picture of the heart and heart valves. Cardiac Catheterization — A procedure that gives very detailed information about the structures inside the heart. Under sedation, a small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin and guided to the inside of the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as in the pulmonary artery and aorta. Contrast dye is injected to more clearly visualize the structures inside the heart. Cardiac Magnetic Resonance Imaging (MRI) — A non-invasive test that uses three-dimensional imaging technology produced by magnets to accurately determine blood flow and functioning of the heart as it is working.

Treatment

Specific treatment for pulmonary atresia will be determined by your child's physician based on: • your child's age, overall health and medical history • extent of the disease • your child's tolerance for specific medications, procedures or therapies • how your child's doctor expects the disease will progress • your opinion or preference Your child most likely will be admitted to the intensive care unit (ICU) or special care nursery once symptoms are noted. Initially, your child may be placed on oxygen, and possibly on a ventilator, to assist his/her breathing. Intravenous (IV) medications may be given to help the heart and lungs function more efficiently. Other important aspects of initial treatment include the following: • A cardiac catheterization procedure can be used as a diagnostic procedure, as well as an initial treatment procedure, for some heart defects. A cardiac catheterization procedure will usually be performed to evaluate the defect(s), whether the foramen ovale or ductus arteriosus are still open, and the amount of blood that is mixing. • As part of the cardiac catheterization, a procedure called balloon atrial septostomy may be performed to improve mixing of oxygen-rich (red) blood and oxygen-poor (blue) blood between the right and left atria. • An intravenous medication called prostaglandin E1 is given to keep the ductus arteriosus from closing. These interventions will allow time for your baby to stabilize. Ultimately, surgery is necessary to improve blood flow to the lungs on a permanent basis. A series of operations are usually recommended and are performed in stages, usually starting shortly after birth. In this series of operations, blood flow is redirected to the lungs and the body with various surgical connections. The surgical correction of pulmonary atresia with intact ventricular septum depends on the degree of underdevelopment (hypoplasia of the tricuspid valve and right ventricle). When hypoplasia is mild, the blocked pulmonary valve can sometimes be opened in the catheterization laboratory. More commonly, however, it is necessary to undertake a surgical procedure with placement of a patch to enlarge the outflow part of the right ventricle and the valve area. Generally, the patch is constructed using the child's own natural tissue from around the heart (pericardium).

Prognosis

The outlook varies from child to child. Consult your child's physician regarding the specific outlook for your child.

Pulmonary Stenosis

Description

The heart is a four-chambered pump with four heart valves. The valves are made of thin flaps of tissue that open to allow the blood to flow forward and close to prevent the blood from flowing backwards. The pulmonary valve is located on the heart's right side. Blue blood that comes from the body is pumped from the right lower chamber called the right ventricle to the pulmonary artery and then circulates to the lungs. When a child has pulmonary stenosis, the area where blood exits the heart's lower right chamber is too narrow. Usually, the pulmonary valve itself is affected which is called valvar pulmonary stenosis. This problem is often caused by fusion of the valve leaflets. Subvalvar stenosis is the term used when the narrowed area is below the valve. Supravalvar stenosis is the term used when the narrowed area is above the valve

Effects

The health effects of pulmonary stenosis are related to the severity of the narrowing and the presence of other heart defects. The severity of narrowing is measured as the pressure difference across the affected area. The higher the number, the greater degree of narrowing and the harder the right heart has to work to pump blood to the lungs. Mild pulmonary stenosis is when the pressure difference is less than 30-40 mmHg, moderate pulmonary stenosis is when the pressure is 40 to 60 mmHg, and severe pulmonary stenosis is when the pressure is greater than 60-70 mmHg. Critical pulmonary stenosis is a term used in infants born with very severe narrowing (greater than 90 mmHg) and requires treatment soon after birth. Mild pulmonary stenosis is not expected to have any short or long term health effects and rarely gets more severe over time. Moderate to severe pulmonary stenosis increases the workload of the heart's right side and can eventually cause damage to the heart muscle. This can result in symptoms of shortness of breath with exercise and low stamina. If left untreated, eventually the heart muscle weakens and symptoms of right-sided heart failure may develop. In a baby born with critical pulmonary stenosis, the opening is so small that the heart cannot pump enough blood to meet the baby's needs. Unless the problem is treated early, the baby will develop problems due to right-sided heart failure. Children with pulmonary stenosis are at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. It most commonly occurs after a dental or other medical procedure and can usually be prevented by a dose of antibiotic prior to the procedure. Exercise recommendations: Exercise recommendations are best made by a patient's doctor so that all relevant factors can be included in the decision. There usually are no restrictions placed on patients with pulmonary stenosis who have <40mmHg gradient and an otherwise normal heart. Patients who achieve a good result with catheter or surgical dilation of the narrowing are usually not restricted from any physical activities.

Diagnosis

Clinical features: Symptoms are related to the degree of narrowing and usually develop slowly over time. Possible symptoms include shortness of breath with exercise and low stamina. Critical pulmonary stenosis in the newborn can cause blueness of the lips (a condition called cyanosis) and/or congestive heart failure. Physical findings: The diagnosis is most often made due to the presence of a heart murmur. The loudness of the murmur is helpful in predicting the degree of narrowing. Loud murmurs usually suggest that there is at least a moderate degree of narrowing. Growth and development is expected to be normal unless there are other health problems. Medical tests: In patients with moderate to severe pulmonary stenosis, the electrocardiogram often shows increased right ventricular forces (over development of the right heart muscle). The chest xray is most often normal. An echocardiogram is able to detect even minor degrees of pulmonary stenosis with almost 100% accuracy. Cardiac catheterization is rarely needed for diagnostic purposes but balloon angioplasty during heart catheterization is often done to treat the problem.

Treatment

Treatment options for pulmonary stenosis include open-heart surgery or balloon angioplasty. The primary indication for treatment is the degree of narrowing and treatment is timed to prevent damage to the right heart. Balloon angioplasty: Balloon angioplasty has proven to be an excellent treatment option for children with pulmonary stenosis. This procedure is done in the heart catheterization laboratory and avoids the need for surgery. During the procedure catheters (thin plastic tubes) are placed into the large blood vessels in the legs and gently guided to the heart. The catheter tip is placed across the pulmonary valve and the balloon tip is inflated. The balloon gently dilates the narrowed area. This procedure achieves a good result in most patients and no further treatment is ever needed. Patients with Noonan and Williams syndromes and patients with a very small pulmonary valve are less likely to achieve good results from the procedure. Some degree of leakage from the pulmonary valve is not uncommon after this procedure. It is usually mild, well tolerated, and does not require any treatment. Other problems stemming from the procedure are uncommon but can include bleeding, infection, and perforation of the heart with the catheters. This procedure is done with IV sedation and usually the patient can go home the following day. Surgical valvotomy: Another treatment option for patients with severe pulmonary stenosis is direct incision of the fused leaflets of the valve during open-heart surgery. During this procedure an incision, called a midline sternotomy, is made down the middle of the chest. A heart lung machine is used to support the patient while the heart is opened and the pulmonary valve is repaired. Surgical repair is preferred when there is more extensive narrowing in addition to the pulmonary valve itself, often as a result of narrowing below and/or above the valve. In these situations, a patch may be needed to enlarge narrowed areas in addition to valve repair. The results from this procedure are also excellent. Hospital length of stay is short (3 or 4 days) and complications are rare. Mild residual narrowing is common but will not result in long-term problems. Valve leakage may also occur but is very well tolerated without the need for valve replacement.

Prognosis

Overall, the outlook for children with this diagnosis is excellent.

Restrictive Cardiomyopathy

Description

In restrictive cardiomyopathy, the heart is normal in size or only slightly enlarged, but it cannot relax normally during diastole (that is, the time between heartbeats in which the blood returns from the body to the heart). It is characterised by increased stiffness of the heart muscle, usually due to scar tissue, which prevents adequate filling of the chambers of the heart. The actual pumping action of the heart is usually normal. Later in the disease, the heart may not pump blood efficiently. The abnormal heart function can affect the lungs, liver, and other body systems. Restrictive cardiomyopathy may affect either or both ventricles and may or may not be associated with a disease of the heartmuscle.

Effects

The effects are similar to those of congestive heart failure. Feelings of weakness, tiredness, and shortness of breath. Many patients have swelling in their legs (called edema). They may also feel sick to their stomach, bloated, and do not feel like eating. These symptoms most likely result from a buildup of fluid around the liver, stomach, and intestines. An irregular heartbeat (called an arrhythmia) and a condition called heart block are also common in restrictive cardiomyopathy.

Diagnosis

An examination may show signs of heart failure with fluid backup into the lungs or the systemic circulation (the extremities, gastrointestinal tract, and liver). The neck veins may be distended. Listening to the chest with a stethoscope (auscultation) may show lung crackles and may show abnormal or distant heart sounds. Tests that may indicate restrictive cardiomyopathy (by showing symmetrical thickening of the ventricle walls and signs of abnormal heart function such as decreased cardiac output, and/or elevated end diastolic pressure) include:

  • ECG (electrocardiogram)
  • Echocardiogram and Doppler study
  • Coronary angiography
  • Chest X-ray
  • Chest CT scan
  • Chest MRI scan
Treatment

Doctors may be able to treat the condition that is causing restrictive cardiomyopathy, but the heart problem itself generally cannot be reversed. Little therapy is known to be effective for the treatment of restrictive cardiomyopathy. Restrictive cardiomyopathy cannot be corrected surgically. Instead, doctors will try to control its symptoms and improve the quality of life.. Various medications may be used to control symptoms. Diuretics may help somewhat in removing fluid, which can improve breathing. Depending on the underlying heart disease, some patients with restrictive cardiomyopathy may benefit from steroids or chemotherapy. A heart transplant may be considered if the function of the heart is very poor.

Prognosis

People with restrictive cardiomyopathy may be candidates for heart transplant. Prognosis is dependent on the underlying cause but it is usually poor.

Supraventricular Tachycardia

Description

Supraventricular tachycardia (SVT) is the most common arrhythmia (abnormal heart rhythm) diagnosed in children. It is said to occur in up to 1 in 2500 children. While the problem is often congenital, meaning it is present at birth, the onset and severity of symptoms varies. Most of the time, the problem occurs in children with otherwise normal hearts but it can occur along with other congenital heart problems. An arrhythmia is an abnormal heart rhythm caused by a problem in the heart's electrical system, also called the cardiac conduction system. When a child has SVT, the heart suddenly starts to beat very fast, at rates of 180 to 280 beats a minute and up to 300 beats a minute in infants. Supraventricular tachycardia means fast heart rate coming from the above the ventricles, in the heart's upper chambers (supra = above, ventricular = the lower heart chambers, tachy = fast, cardia = heart). Sometimes other names are used for SVT such as paroxysmal (starts and stops without warning) atrial tachycardia (PAT) and paroxysmal supraventricular tachycardia (PSVT). All these terms describe SVT. Wolff-Parkinson-White syndrome (WPW) is one subset of SVT and is the most common type of SVT in young children. The information in this section applies to children with WPW but there are a few differences discussed in that section. When a child has SVT, there is usually an extra pathway in the heart's electrical system that connects the top chambers and lower chambers of the heart. Usually the only electrical connection is the AV-node, so the extra connection provides a potential "short circuit" in the heart. Most of the time, the extra pathway does not effect the heart rhythm. However, if there is an early heart beat (called a premature atrial contraction — PAC, or premature ventricular contraction — PVC), the impulse may travel down to the lower chambers using the normal pathway, the AV node, causing the heart to beat, and travel back up the extra pathway to the atria. The impulse then continues going around this circuit, somewhat like "a dog chasing its own tail" driving the heart at a very fast rate. When the electrical loop is blocked anywhere along its route, normal heart rhythm can resume. Another form of SVT in children is called atrioventricular reentrant tachycardia (AVNRT). This is the most common form of SVT in adults. In about 10% of children, SVT results from an extra focus or "pacemaker" in the atria (upper chambers) that beats faster than the normal pacemaker, the SA node. The diagnosis, outlook and treatment are similar in all of these forms of SVT.

Effects

SVT generally begins and ends quickly. Many children experience short periods of SVT and have no symptoms. However, SVT becomes a problem when it occurs frequently or lasts for long periods of time and produces symptoms. Common symptoms associated with SVT include palpitations (a fluttery feeling in the chest), light headedness, and chest pain. SVT may also cause confusion or loss of consciousness.

Diagnosis

An examination during a SVT epsiode detects a regular, rapid heart rate. The heart rate may be 150 to 250 beats per minute (bpm) (in children the heart rate tends to be very high). There may be signs of poor perfusion (blood circulation) such as light-headedness. Between episodes of PSVT, the heart rate is normal (60 to 100 bpm). The diagnosis is established by an ECG (electrocardiogram). It shows a rapid, narrow-complex tachycardia. Because of the sporadic nature of the PSVT, its diagnosis may require continuous ambulatory monitoring. The most common is the 24-hour Holter monitoring. For longer recording periods, a "loop recorder" (with computer memory) is used. An electrophysiology study (EPS) is often necessary for an accurate diagnosis, and to recommend the best treatment.

Treatment

As stated above, the fast heart rate occurs intermittently and is rarely life-threatening. The episodes are started by extra, early heartbeats. Although these extra beats occur in all children and adults, they can be increased in frequency by caffeine and other stimulants such as decongestants found in cold and allergy medications or inhalers used to treat asthma. For this reason, people with SVT are often counseled to avoid caffeine in their diet and to avoid certain medicines. Episodes of SVT can often be stopped by "vagal maneuvers". Vagal maneuvers increase the "slow down" messages sent to the heart by the brain along a nerve called the vagus nerve. These maneuvers include: 1) blowing on the thumb as if it were a trumpet (without letting any air out while blowing); 2) "bearing down" as if passing a bowel movement; 3) placing the face ice water or placing ice to the face while holding the breath, and 4) doing a headstand. Older children can be taught to use these maneuvers on their own. If vagal maneuvers do not work and an episode lasts longer than 45 minutes, the child should be taken to the local emergency room for treatment. Usually an IV medicine called adenosine is used to convert the heart rhythm back to normal. If the episode does not respond to IV medication, in the presence of severe symptoms, electrical cardioversion (shock) may be needed. Treatment of SVT includes 1) watchful waiting with use of vagal maneuvers, 2) medication, or 3) radiofrequency ablation. Treatment decisions are made based on 1) age/size of the patient, 2) in the case of Wolff-Parkinson-White syndrome, whether the extra pathway is able to conduct an electrical signal rapidly from the upper chambers to the lower chambers of the heart, 3) the frequency and severity of symptoms, 4) treatment effectiveness for a particular patient, 5) whether the child wants to play competitive sports, and 6) child/family preference.

Prognosis

The outlook for children with SVT is excellent. The problem is usually not life- threatening and there are safe and effective treatments available. Exercise guidelines: Exercise guidelines are best made by a patient's doctor so that all relevant factors can be included. Usually no activity restrictions are necessary for children with SVT and the child may participate in all physical activities including competitive athletics. If an episode occurs during competition, the child should remove himself from participation until the arrhythmia is converted. Also, activities that involve climbing or heights should be avoided since an episode may cause dizziness leading to a fall.

Tetralogy of Fallot

Description

Tetralogy of Fallot occurs when the right side of the heart does not develop properly while a baby is in the mother's womb. A French physician, Etienne Fallot first described it, in 1888. The cause of the problem is not understood. The parts of the heart affected are the pulmonary valve, right ventricle and the ventricular septum. It is the most common form of cyanotic congenital heart disease and is slightly more common in males. It affects one out of every 1000 babies born with congenital heart disease. This heart problem is known to be associated with other congenital problems including Goldenhar syndrome, velo-cardio-facial syndrome, and DiGeorge syndrome. In tetralogy of Fallot, the area of the right ventricle that leads to the pulmonary artery is narrow . In addition, the pulmonary valve itself is often small causing further obstruction of blood flow to the lungs. These areas of narrowing make the right ventricle work harder to get blood past the blockage and results in thickening of the muscle of the right ventricle. This thickening of the muscle is called right ventricular hypertrophy. Another part of this heart defect is a hole in the wall of the heart (called the septum) that separates the right and left ventricle. This hole, called a ventricular septal defect, allows blue blood from the thick, narrow, high-pressure right ventricle to cross over to the lower pressure left ventricle where it mixes with red blood. The mixing of red blood with blue blood before the blood is sent out to the body is what causes the baby to appear blue. This blue color which is seen in the lips and under the fingernails is called cyanosis. The degree of cyanosis is dependent on the severity of the narrowing in the right ventricle. The fourth part of the defect as originally described by Dr. Fallot is the altered position of the aorta called aortic override.

Effects

Tetralogy of Fallot is a serious heart problem because it obstructs blood from reaching the lungs. Usually, the baby will have a bluish color called cyanosis. Although this may not be very severe at first, it generally increases over time. In some babies, the obstruction is severe causing significant cyanosis and very low oxygen levels soon after birth. Usually the child's growth and development is not significantly affected. Some babies with tetralogy of Fallot have periods where the cyanosis becomes very severe and the baby looks very blue. The baby may be upset at the time, and may actually pass out or even have a seizure. These periods are called "tetralogy spells" or hypoxic spells. The precise cause is not known but during a spell there is very little blood flow to the lungs. Hypoxic spells are more likely to happen when the baby is a little "dry" or dehydrated and may be prevented by careful attention to hydration particularly if the baby is having problems with vomiting or diarrhea. Spells are also more likely if the baby is anemic (low blood) so if this is noted the doctor may order an iron supplement. During a spell, the baby turns very blue even though he or she is breathing rapidly. If a spells occurs, the baby should be placed in a knee-chest position (draw the baby’s knees up to their chest and hug them close to your body), attempt to calm the baby, and call the pediatric cardiologist or pediatrician. If a baby has even one spell, surgery will need to be scheduled to try to avoid another one that could possibly result in harm to the baby. Sometimes medicine is used to relax the right ventricle and hopefully prevent additional spells while the child is awaiting surgery.

Diagnosis

Clinical features: As described above, most babies with tetralogy of Fallot are "blue" which means that they have lower blood oxygen levels than normal. The medical term for low blood oxygen levels is cyanosis. The blue color is best seen in the lips and under the fingernail beds but can be quite hard to detect just by looking at the baby. Most babies are otherwise healthy and grow normally although some have other health problems. Physical findings: Most babies with TOF have a heart murmur and look a little blue. The examination is otherwise usually normal. Medical tests: Blood oxygen levels are measured by an oxygen saturation test or by a blood test. An electrocardiogram and chest x-ray. The defect is diagnosed by a heart test called an echocardiogram or heart ultrasound. The echocardiogram uses sound waves to form an image of the valves and chambers inside the heart. It is safe and painless and test results are available right away. Another heart test called a heart catheterization is needed if the echocardiogram is not completely clear about the heart problem or additional abnormalities are present that may affect how the surgeon would go about fixing the defect. During a heart catheterization catheters (thin plastic tubes) are placed into a large blood vessel in the child's groin and dye is put into the blood stream. Ray type pictures are then used to follow the blood through the heart chambers, valves and arteries to see the areas of narrowing or other abnormal places of blood flow. It is more involved then the echocardiogram but is considered very safe. The babies are sedated and treated for pain during the test. The results of the test are most often available on the same day.

Treatment

Since the defect causes cyanosis and overwork for the heart, a corrective operation during early childhood is needed. Sometimes medicines are used to prevent spells while surgery is being planned. The age of the child at operation and the kind of operation will depend on the child’s symptoms and the precise anatomy of the defect. Generally, repair is performed on babies with tetralogy of Fallot around 4 to 6 months of life or sooner if spells occur. If the baby is has a spell, repair is then done at that time no matter the baby's age. When the surgeon fixes this defect an incision is made down the center of the breast bone and the heart is stopped for a brief period of time while the body is supported with a heart lung bypass machine. The defect is then fixed by patching the hole in the wall between the two ventricles such that blue blood goes out the right ventricle to the pulmonary artery and lungs and the red blood goes out the left ventricle to the aorta and to the body. Dividing thickened strands of muscle tissue that cross over the area where the blood exits the right ventricle relieves the area of narrowing out the right ventricle. Sometimes a small amount of excess muscle needs to be removed. The area of narrowing at the pulmonary valve is treated differently depending on the actual size of the valve itself. Sometimes the surgeon opens the valve with an instrument called a dilator that allows blood to go across the valve without a problem. Unfortunately, this is not always sufficient to open the valve enough because the whole valve area is too small. In this case the surgeon will sew a patch across the area of the pulmonary valve to enlarge the area and allow blood to cross into the pulmonary artery without narrowing. Most of the surgery is done through an incision in the right atrium and if a patch is needed to open the valve area only a tiny ventricular incision is needed. If the baby has other health concerns or there is an unusual location of one of the heart arteries the surgeon may choose to delay the total repair and do a shunt operation. This operation will give the baby adequate blood flow to the lungs and provide protection from the dangers of hypoxic spells until other concerns can be fixed or the baby is older. A shunt operation does not require the heart lung bypass machine. The incision is on the side of the chest under the arm between the ribs. A tube of Gore-Tex is placed between the pulmonary artery and a blood vessel branching off the aorta. Some blood in the aorta will go through the shunt into the pulmonary artery and to the lungs to get oxygen. This protects blood flow to the lungs even if the narrowing out the right ventricle is really severe. The shunt will be taken out when the full repair is done.

Prognosis

The operative risk is approximately 3% and is unaffected by age at repair. The late outcome following repair of tetralogy of Fallot is excellent and many long-term studies document excellent results with normal exercise capabilities well into adult life. There are certain associated conditions that will, however, alter the nature of the surgical repair and increase the likelihood that additional surgery will be required in the future. One such condition is the presence of pulmonary atresia (absence of the pulmonary valve) which requires the placement of a conduit, or tube, to establish a connection between the right ventricle and the pulmonary artery. Most conduits will require replacement in later life because of growth or malfunction. Reoperation for a conduit change can be done at very low risk. Regardless of the presence or absence of associated conditions, all children require lifetime follow-up to check for the development of other conditions that may require treatment. These include rhythm disturbances, valve regurgitation, and decreased heart function.

Total Anomalous Pulmonary Venous return

Description

Total anomalous pulmonary venous return (TAPVR) is a heart defect in which one or all of the pulmonary veins between the lungs and heart are not properly connected. In a normal heart, oxygen–rich blood travels from the lungs back to the left side of the heart through the pulmonary veins. From there, the blood is pumped through the aorta out to the tissues and organs of the body. TAPVR is a heart defect in which one or all of the pulmonary veins between the lungs and heart are not connected properly. Instead of going to the left side of the heart, these veins return oxygen–rich blood back to the right side of the heart, where the blood is once again pumped back into the lungs. As a result, oxygen–rich blood cycles endlessly to and from the lungs and never gets delivered out to the oxygen–starved tissues and organs of the body. For an infant to survive with TAPVR, even for a short while, other heart defects must be present that allow oxygen–rich blood on the right side of the heart to mix with oxygen–poor blood on the left side of the heart. The most common associated congenital defect is known as an atrial defect septal (ASD) – a hole in the wall (septum) between the two upper chambers of the heart (the atria). The ASD improves the circulation of an infant with TAPVR by allowing some oxygen–rich blood to travel from the right atrium through the ASD and into the left atrium, from there it can travel to the left ventricle and through the aorta to the rest of the body. The result is a blood supply to the body that carries at least some available oxygen-rich blood. Another associated defect is known as a patent ductus arteriosus (PDA). This is a defect in which a normal fetal blood vessel (ductus arteriosus) between the aorta and the pulmonary artery remains open (patent) after birth. By keeping open the connection between the aorta and the pulmonary artery, some of the oxygen–rich blood that is abnormally traveling through the pulmonary artery and back to the lungs can travel through the aorta and to the rest of the body.

Effects

TAPVR causes low oxygen levels in the body’s blood supply and adds additional strain to the lungs and the heart as they work to meet the body’s demand for oxygen–rich blood. Without treatment, lung congestion and heart failure will occur within days or weeks. Obstructions of the pulmonary veins, as well as overall congestion in the heart due to the overload are not uncommon. The severity of symptoms often depends on the variety of TAPVR. If the pulmonary veins travel back through the diaphragm and into the abdomen, the muscles in the diaphragm will constrict the veins, causing an obstruction. Symptoms in this case will be more severe and appear sooner. There are a few different types of TAPVR, which are classified according to where the pulmonary veins mis–connect:

  • Supracardiac (usually the superior vena cava), which drains the upper body and head).
  • Cardiac (directly into the right atrium or the coronary sinus).
  • Infracardiac (below the diaphragm to veins such as the inferior vena cava, the portal vein, the hepatic vein or the ductus venosus).
  • Mixed (involves two or more of these types). As with many other congenital heart diseases, the main sign of TAPVR is cyanosis – a bluish color to the skin that signals a lack of oxygen in the blood that is often called blue baby when occurring in infants.

Other signs include the following:

  • Difficult and/or rapid breathing (tachypnea)
  • High level of acid bodies (metabolic acidosis) in the baby’s blood as a result of low oxygen levels and high carbon dioxide levels
  • Extreme fatigue or lethargy
  • Poor feeding
  • Unhealthy appearance
  • Poor weight gain
Diagnosis

TAPVR occurs in about one in every 15,000 live births, or 1.5 percent of newborns with congenital heart disease. To diagnose TAPVR, a physician will question the parent(s) about what they have observed in their child and will also give the child a complete physical exam. The physician will likely order: • a chest x-ray, which could reveal an enlarged heart. • An echocardiogram is another painless imaging test that may also be ordered to show where the misconnected pulmonary veins are attached. It can also reveal whether the size of the left atrium is reduced (sometimes up to 50 percent) and whether the cavity of t he left ventricle is small, though the chamber’s function and overall mass are generally normal. •In addition, a cardiac catheter diagnostic tests may be performed to confirm the exact location and nature of the defective veins.

Treatment

TAPVR is treated with open-heart surgery. In most cases, this surgery will be performed as soon as possible (sometime in the first six months). Surgical repair consists of reconnecting the pulmonary veins to their normal position in the left atrium and repairing any other congenital heart defects that may be present. If there is an atrial septal defect (ASD), it is closed to prevent further mixing of oxygen–rich and oxygen–poor blood. Any other abnormal connections that are present (such as a patent ductus arteriosus) are also closed. Early surgical repair usually gives excellent results, provided there are no additional heart defects.

Prognosis

TAPVR is a very serious medical condition that must be treated for survival. For most babies, survival with TAPVR depends on the presence of other heart defects that allow some mixing of oxygen–rich and oxygen–poor blood in the right and left sides of the heart. This allows at least some oxygen–rich blood to reach the body, although not usually enough to prevent serious complications. The long–term outlook after surgical repair is generally good, but lifelong medical management may be necessary. Potential complications include obstructions in one or more of the pulmonary veins, as well as abnormalities in heart rhythms. Sometimes a stent is inserted during a catheter-based procedure to help keep a blocked pulmonary vein open. Like some other congenital heart defects, the cause of TAPVR is unknown.

Transposition of the Great Arteries

Description

The cause of the problem is not understood. It is the most common form of cyanotic congenital heart disease which presents in the newborn period. It is more common in males and the babies are usually normal birth weight and size. TGA accounts for 5 to 7% of all congenital heart defects. There are several other heart abnormalities that may occur along with TGA. The most common associated problem is a ventricular septal defect (3). This is a defect or hole in the wall that separates the lower two chambers of the heart, the ventricles. There may be narrowing of the area of the heart where blood flows out to the pulmonary artery. This is called left ventricular outflow tract obstruction. Many of these babies have an atrial septal defect (4) (a hole in the wall that separates the top two chambers of the heart) and/or a patent ducts arteriosus (5). This is normal birth channel between the aorta and pulmonary artery present at birth that may fail to close in the presence of other heart problems.

Effects

When a baby has TGA, there are two separate circuits of blood flow instead of a connected one. Blue blood returning from the body is pumped right back out to the body and red blood returning from the lungs is pumped right back to the lungs. As a result, the baby develops a blue color, called cyanosis, shortly after birth. The blue color can best be noticed in the lips or under the fingernails. In a baby with heart related cyanosis, the blue color does not improve with the use of oxygen. If this situation were to continue the baby could soon die from lack of oxygen delivery to the body. The only way a baby with TGA can survive after birth is if there is a way for the red and blue blood to mix together within the heart so that some red blood gets pumped out to the body. An atrial septal defect and/or a patent ducts arteriosus will usually permit enough oxygen to allow the baby to survive until a more definitive intervention can be performed. Some babies with TGA also have a hole between the heart's lower chambers called a ventricular septal defect. If this is present, enough mixing of blood may occur that the baby may not appear cyanotic at all and may actually become ill with symptoms of congestive heart failure because of the extra blood flow going to the lungs. Then the baby will have symptoms of poor feeding, poor weight gain, sweating, and fast or labored breathing. Finally, there may be narrowing of the area leading out the left ventricle to the pulmonary artery called left ventricle outflow tract obstruction. In this situation even though there is the hole for the blood to mix, the total amount of blood flow going into the lungs is reduced. The degree of narrowing varies and can be mild at first but can get worse with time. As the narrowing increases the baby's coloring will become more cyanotic (blue). The severity of symptoms is dependent on how much red and blue blood mix together and the presence or absence of obstruction to blood flow out the left ventricle. The type and timing of operation depend on the combination of defects that accompany the primary problem of TGA. Babies with TGA may develop early pulmonary vascular disease. This is an increase in the pressure in the lung blood vessels that cause changes that make it hard for them to accept low-pressure blood flow. These changes can occur as early as a few weeks of life and tend to occur more frequently in babies who have ventricular septal defects in addition to TGA. Early corrective surgery minimizes the chances of development of elevated pulmonary vascular resistance in these babies.

Diagnosis

Clinical features: As described above, babies with complete TGA have lower blood oxygen levels from the time of birth. The blue color is seen in the lips and under the fingernail beds and can be quite hard to detect just by looking at the baby. Signs of congestive failure including symptoms of congestive heart failure develop including excessive sweating (a cold, clammy sweat often noted during feeding); poor feeding, slow weight gain, irritability or lethargy, and/or rapid breathing usually develop during the newborn period. Physical findings:Complete TGA is usually diagnosed with 24 to 48 hours of birth due to the presence of cyanosis which is moderate or severe in most cases. The second heart sound is loud and single. There may or may not be a murmur depending on the presence of a ventricular septal defect. If the baby is in congestive heart failure, the breathing rate will be fast and the liver will be enlarged. Medical tests: Blood oxygen levels can be measured by an oxygen saturation test or by a blood test. Sometimes the baby will be placed in an oxygen tent and given 100% oxygen to breathe in order to see if the blood oxygen levels increase. If the oxygen levels do increase significantly, it suggests that the low level of oxygen if from a lung problem instead of a heart problem. An electrocardiogram and chest x-ray is also usually done. The defect is diagnosed by a heart test called an echocardiogram or heart ultrasound. The echocardiogram uses sound waves to form an image of the valves and chambers inside the heart. It is safe and painless and test results are available right away. In some cases, the diagnosis is made before birth during a fetal ultrasound. The earliest time the test can be used to diagnose this problem is when the mother is 18 weeks into her pregnancy. Another heart test called a heart catheterization will be necessary if the echocardiogram is not completely clear about the heart problem or if additional abnormalities are present that may affect how the surgeon would fix the defect. During this procedure, catheters (thin plastic tubes) are placed into the large blood vessels located in the groin area and gently guided into the heart. Contrast or "dye" is then put into the heart so x-ray pictures can be taken. Pressure measurements and oxygen levels are also obtained. It is more involved then the echocardiogram but is considered very safe. The babies are sedated and given pain medicines during the test. The results are most often available on the same

Treatment

A heart operation will be necessary to correct the defect. While waiting for surgery, a medicine called prostaglandin may be used to keep the ductus arteriosus open and allow for better mixing of red and blue blood. A procedure called a balloon atrial septostomy may be needed to increase mixing of red and blue blood inside the heart and prevent complications of severe cyanosis. This procedure is done during a heart catheterization. A thin plastic tube or catheter is placed into a large vein in the baby's groin. This catheter is then passed into the right atrium and across the small hole in the wall between the right and left atrium. Once the catheter is in the left atrium a balloon is expanded and pulled back through the hole into the right atrium making the hole bigger. This allows more mixing of the red and blue blood and higher oxygen levels while the baby awaits surgery. The age of the child at operation and the kind of operation will depend on the child's symptoms and the precise anatomy of the defect. The surgery most frequently performed for complete TGA with or without a ventricular septal defect is called an arterial switch operation. In this operation the two blood vessels which are reversed are "switched" back to the correct location. This operation must be done within the first few weeks of the infant's life when both the right and left ventricle are used to pumping blood against the higher pressures found in the fetal circulation. When a surgeon fixes this defect an incision is made down the center of the breast bone and the heart is stopped for a short period of time while the body is supported with a heart/lung bypass machine. The aorta and pulmonary artery are divided and reconnected so that the pulmonary artery is connected to the right ventricle(1) and supplies blue blood to the lungs. The aorta is connected to the left ventricle and supplies red blood to the body (2). The coronary arteries are also relocated so that they will receive red blood from the aorta for the heart muscle itself. If there are any septal defects, either in the atrium or the ventricle, these holes are also closed. At the end of the operation the baby's heart is completely normal both in its connections (anatomy) and in the way the blood flows (physiology). In addition, this operation provides the advantage of keeping the left ventricle on the side of the heart that pumps blood to the body. If the baby is older at the time of diagnosis or there is an unusual location of one of the coronary arteries, the surgeon may choose to perform an atrial switch operation called a Mustard or Senning operation. For this operation, now rarely used, the incision is made as it is with the arterial switch and the heart/lung bypass machine is used. The venous drainage of blood coming into the heart is rerouted rather switching the arteries that carry blood out of the heart. In this case the blue blood returning to the right atrium is redirected to the left atrium (1), flows to the left ventricle (2) where it is pumped through the pulmonary arteries to the lungs. Red blood returning from the lungs is baffled to the right atrium (3), flows to the right ventricle (4) where it is pumped through the aorta and out to the body. Even though the blood goes to the right location, the heart remains configured so the right ventricle pumps blood to the body and the left ventricle pumps blood to the lungs. and into the pulmonary artery two operations are usually required to fix the heart. This type of TGA, known as transposition with left ventricular outflow tract obstruction, cannot usually be repaired by an arterial switch operation because of the narrowing out of the left ventricle, although in some cases the narrowing can be removed. The first operation may be required when the baby is a newborn if the level of oxygen saturation in the blood is too low, lower than in the mid 70's%. This operation is called a shunt operation and is done to increase blood flow to the lungs and provide the baby with the oxygen necessary to grow and develop until they get to a size and age where complete repair is safe and low risk. This is usually about 6 months of age. In some babies the shunt operation is not necessary because even though the baby has blue coloring, the level of oxygen in the blood is satisfactory because the narrowing is not too severe. The shunt operation does not require the heart/lung bypass machine. The incision is made on the side of the chest under the arm between the ribs. A tube of Gore-Tex is placed between the pulmonary artery and a blood vessel branching off the aorta. Therefore, when blood goes out the right ventricle and aorta (transposition) some will go through the shunt into the pulmonary artery and to the lungs to get oxygen. This protects blood flow to the lungs even if the narrowing out the left ventricle is really severe. Eventually the shunt will be taken out when the full repair is done. In order to fully correct transposition with left ventricular outflow tract obstruction, the ventricular septal defect must be closed, the narrowing out the ventricle bypassed and the blood flow redirected such that red blood exits to the body via the left ventricle and blue blood exits the right ventricle to the lungs. This operation is called a Rastelli operation. When the surgeon fixes the heart with this operation an incision is made down the center of the breastbone and the heart is stopped for a short period of time while the body is supported with a heart/lung bypass machine. The ventricular septal defect is closed in such a way that the left ventricle is connected to the aorta and the right ventricle is connected to the lungs using a tube or conduit with a valve in it (1). One end of the conduit is connected to the right ventricle where blood exits into the pulmonary artery and the other end is attached to the pulmonary artery (2). It acts as a "bypass" for blood to flow around the naturally occurring narrowing. This particular tube or conduit will need to be replaced as the child grows. Usually this is not necessary for 3 to 5 years after the original operation if done in infancy and then 1 to 2 more times throughout the child's life. In extremely rare cases, TGA may not be diagnosed until the baby is over a month of age. It is too late at this time to perform an arterial switch operation since the left ventricle is no longer strong enough to pump blood to the body. In this situation there are two options for repair. The first is the venous or atrial switch operation as discussed previously. The second option is to do an operation to make the left ventricle stronger again and able to pump blood to the body. In order to do that a band is placed around the pulmonary artery and tightened causing the left ventricle to push against higher pressure. This acts to strengthen the muscle of the left ventricle. In addition, a shunt is placed which provides extra blood volume to the left ventricle. This also acts to increase the work of the left ventricle and make it ready to handle the work of pumping blood to the body. The optimal time to wait between this operation and the arterial switch depends on the baby's age and the response of the left ventricle, but is generally only a few days to weeks. This procedure is referred to as a staged arterial switch.

Prognosis

The surgical repair for complete TGA is generally very safe and both early and late outcomes are excellent. The risk for the arterial switch operation is less than 3 to 5% when TGA exists alone or with an associated VSD. The Rastelli operation carries a slightly higher risk, approximately 5 to 10%. Further surgery is usually not required, but about 5% of children will need additional surgery to repair a narrow connection later in life. When necessary, this almost always involves the connection into the lungs (pulmonary artery). The presence of certain unusual coronary artery variants may also increase the risk of an arterial switch operation, but in experienced centers, this increase is minimal, if at all. If a conduit is required, replacement will be necessary as indicated above. The risk for replacement is very low. The majority of children lead normal, active lives after repair of TGA. Life long follow-up is required to assess for the possible development of late problems, including narrowing of a connection into the lungs, valve leakage, coronary artery narrowing, and heart muscle function.

Tricuspid atresia

Description

In the normal heart, the tricuspid valve is located on the heart’s right side between the atria (the upper chamber) and the ventricle (the lower chamber). In babies born with tricuspid atresia, the tricuspid valve is absent (1) and the right ventricle is small (2). In about 25% of babies, the position of the great arteries is also reversed. In some babies, there is also a severe narrowing at the pulmonary valve (3), or there can be complete absence of the pulmonary valve. In all babies with tricuspid atresia, there is no direct pathway for blue blood returning from the body to get to the lungs to pick up oxygen. This is not a problem before the baby is born since oxygen is provided by the mother but after birth the baby’s oxygen levels are lower than normal so the baby’s lips and fingernails look blue or cyanotic. Cyanosis is the medical term used when the lips or nailbeds look blue from too little oxygen in the blood. In a baby with tricuspid atresia, after birth, the blood must take an indirect pathway to reach the lungs. Most of the time, this pathway is through two holes in the heart. There is usually a hole between the upper chambers called an atrial septal defect (ASD) and a hole between the lower two chambers of the heart called a ventricular septal defect (VSD). Blue blood returning from the body to the heart’s right atrium flows across the ASD to the left upper chamber, through the mitral valve to the left lower chamber and then flows out the aorta to the body, as well as, across the VSD and out the pulmonary valve to the lungs. If there is severe narrowing at the pulmonary valve, the only way blood can reach the lungs is through a patent ductus arteriosus. This a small blood vessel that, prior to birth, permits the blood to by-pass the baby’s fluid-filled lungs. Normally, one to two days after birth, this vessel closes. In a baby with tricuspid atresia with severe pulmonary narrowing, closure of the ductus arteriosus removes the baby’s means of getting blood to the lungs and can result in very low oxygen levels. In this case a medicine called prostaglandin is given to keep the ductus arteriosus from closing.

Effects

Like most heart defects, tricuspid atresia does not have an adverse effect until after the baby is born. It is a serious problem and without surgery, most children would not be able to survive the first year of life. Before surgery, the health effects in infants include low blood oxygen, congestive heart failure, and/can slow growth. Most babies with tricuspid atresia have very low blood oxygen levels but this can vary depending on the presence of pulmonary narrowing and whether or not the great arteries are reversed. In some babies with tricuspid atresia there is too much blood flow to the lungs causing congestive heart failure and the associated symptoms of poor feeding, clammy sweating, fast breathing, low energy, and slow growth. Children with tricuspid atresia will need 2 or 3 open-heart operations during childhood. If, after birth, the blood oxygen levels are very low, an aortopulmonary shunt is done, usually during the first one to two weeks of life. Between 6 to 12 months of age a hemi-Fontan operation is done and between 18 and 30 months of age a Fontan operation is done. Please refer to each operation below to learn more about what to expect health-wise, for a child after each of these operations. back to top

Diagnosis

Prenatal diagnosis: Tricuspid atresia can be diagnosed before birth by a fetal echocardiogram or heart ultrasound as early as 18 weeks into the pregnancy. This test is done when there is a family history of congenital heart disease or when a question is raised during a routine prenatal ultrasound. Symptoms: In a newborn baby, usually, cyanosis is what alerts parents or health care providers that the child may have a heart problem. This is most often noted during the first week of life. Later on, possible symptoms include rapid breathing, sweating, low energy and poor weight gain. If the baby depends on the ductus arteriosus for blood supply to the lungs, it may close during the first week of life causing sudden and profound cyanosis. Physical findings: Most babies with tricuspid atresia are born at term and are a normal weight and length (since before birth the baby’s oxygen comes from the mother). After birth, the baby’s lips and fingernails may look blue. A heart murmur is almost always heard and congestive heart failure may develop. Symptoms of congestive heart failure in infants include rapid breathing, clammy sweating, poor feeding, and poor growth. Medical tests: The suspected diagnosis is confirmed by an echocardiogram. Sometimes, a heart catheterization is needed to help the doctors plan the surgery. An oxygen saturation test is used to measure the blood oxygen levels. Other tests include an electrocardiogram and chest x-ray.

Treatment

Tricuspid atresia is a serious heart problem requires two or three heart operations during the first three years of life. In these babies, the right side of the heart is unable to pump blood. So, the goal of the operations is to bypass the heart’s right side by redirecting blue blood, returning from the body, directly to the lungs via the pulmonary arteries. Experience has shown that the outcomes for children are much better if this type of repair is done one step at a time. In addition, prior to operations, a heart catheterization may be needed. During this test, soft, thin plastic catheters (tubes) are placed in the large blood vessels in the leg and threaded carefully to the heart. The catheters are used to take pressure measurements inside the heart and to inject contrast or dye so pictures of the heart can be taken. Systemic-pulmonary artery shunt (also called Blalock-Taussig shunt): This operation is needed in most babies born with tricuspid atresia during the first week or two of life. The goal is to provide a stable supply of blood to the lungs and it is needed when the oxygen levels are too low soon after birth or if the baby is dependent on a patent ductus arteriosus. The surgery involves sewing a Gortex tube between the subclavian artery and the right pulmonary artery (1). Through this tube, a fixed amount of blood reaches the lungs with each heartbeat. Pulmonary artery band: In babies with tricuspid atresia and transposition of the great arteries without pulmonary stenosis, the problem is too much blood flow to the lungs. In this case, the oxygen levels may be normal but congestive heart failure may develop. Therefore, an operation called a pulmonary artery band may be done. In this operation, a band is placed around the pulmonary artery and tightened just enough to decrease blood flow through this area. After these operations, the left-heart pumps a mixture of red and blue blood out to the body. It pumps blue blood coming back from the body and red blood coming back from the lungs. Since mixed blood is going out to the body, the oxygen level in the blood is lower than normal. This makes the baby’s lips look a little "dusky" or blue and is more noticeable when the baby cries. Since the baby’s body is used to a lower oxygen level, it does not hurt the child to cry even he/she looks more "blue". Most babies go home ten days to two weeks after the operation is done. They often go home on three or four heart medicines. Some babies need to use a feeding tube for part of their feedings, at least for the first several weeks. Babies with heart problems often need extra calories in their milk. Breast milk is very good for children with heart problems as it is for all babies. Mothers of babies with heart defects can breast feed and breast milk can be given in the tube feedings. Supplements can be added to the breast milk if the baby needs more calories. Parents learn about their baby’s care before discharge from the hospital. They will be able to feed their baby and give the medicines that will be needed at home. In this way, parents come to know that they can care for their baby’s special needs. Many parents choose to have a nurse visit their home after the baby leaves the hospital. The nurse can answer questions, assess how the baby is doing, and help parents learn more about their baby’s care. During the first months of life, most babies grow well and learn to smile, roll over, and play with their toys like other babies. Some babies have trouble gaining weight and need richer milk to drink. Some are slow to learn motor skills. Babies who are slow to develop often benefit from special help that can be arranged through the local school district among other places. Hemi-Fontan (sometimes called bidirectional Glenn procedure): The goal of this operation is reduce the work of the heart’s only effective pumping chamber, the left ventricle, which up to this point has been doing double-duty, pumping blood to the body and to the lungs. This operation cannot be done right after birth since newborn babies have high pressure in their pulmonary arteries that does not go down until about 6 to 8 weeks of age. Prior to surgery, a heart catheterization is often done to make sure, among other things, that the pressure in the pulmonary arteries is low enough to proceed. In this operation, the superior vena cava is cut and both ends are is sewn into the right pulmonary artery. Now blue blood returning from the upper body flows directly to the lungs (bypassing the heart). A patch is placed over the top part of the heart’s right upper chamber. This prevents blood from the upper body from entering the heart and blood from the lower body from entering the lungs. It also maintains a connection that is used for the final stage of the repair and greatly simplifies the last operation. If present, the aortopulmonary shunt is also removed. Most children tolerate the hemi-Fontan operation very well and are able to return home about a week after surgery. The child usually looks about as "blue" as before the surgery since the blood returning from the lower body still bypasses the lungs. Children usually go home on several medicines that often can be stopped six to twelve months later. After this operation, most children grow and develop normally. They are not highly prone to infections than other children and can be involved in all age appropriate activities. There are no activity restrictions for toddlers and no need to stop children from being too active. Children know when they have reached their limit and will stop and rest. In general, children can return to daycare two weeks after discharge from the hospital. Fontan procedure: The Fontan procedure is the final operation done to repair tricuspid atresia. The patch placed over the heart’s right atrium (during the hemi-Fontan operation) is removed and a Gortex baffle is sewn in the right atrium. This creates a tunnel that guides blue blood returning from the lower body through the right atrium to the pulmonary artery. After this operation, most of the blue blood goes to the lungs so the child usually looks "pink". Sometime a small hole, called a fenestration, is made in the baffle. This provides a pop-off valve or escape route for blood in case the pressure in the lungs is a little high right after the operation. If the hole does not close on its own, it may be closed at a later time during a heart catheterization. Over time, different methods have been used to close the hole. In the past, a suture was loosely sewn around the hole during the Fontan procedure and used later to pull the hole closed.. A newer method of closing the hole is using a closure device. In this method, the device is collapsed within a catheter so that it can be delivered to the site of the fenestration. After the catheter tip is moved into place, the device is pushed out of the catheter, across the fenestration, and secured in place. The child usually stays in the hospital for one night after this procedure.

Prognosis

After the operations, most children live quite normal lives and most have normal intelligence. They are able to go to daycare, school, play with friends, and participate in the usual recreational activities. They tend to have lower endurance levels than others their age and may require more rests during physical activities. These children are restricted from vigorous and competitive sports so it is important for parents to help them find other areas of interest. Children with tricuspid atresia are at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart and or abnormalities of the valves. It can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. SBE can usually be prevented by taking an antibiotic before these procedures. Possible long-term medical problems for children born with tricuspid atresia include abnormal heart rhythms, specifically, atrial flutter and/or sick sinus syndrome and congestive heart failure. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Children with tricuspid atresia are usually restricted from vigorous or competitive sports but can participate in recreational sports. It is important for them to always be able to self-limit their activity, that is, to rest whenever they feel the need to do so. The children can usually participate in gym class but should be allowed to self-limit their level of exertion and they should not be graded (which could increase the pressure to exceed their natural limits).

Truncus Arteriosus

Description

In the normal heart, there are two large blood vessels that take blood away from the heart. The blood vessel that normally arises from the right heart, the pulmonary artery, takes blue blood from right lower chamber (the right ventricle) to the lungs. The blood vessel that normally arises from the left heart, the aorta, takes red blood from the left lower chamber (the left ventricle) out to the body. In babies with truncus arteriosus there is only one large blood vessel leaving the heart instead of two. This single vessel supplies blood to the body and branches from this large vessel, called pulmonary arteries, supply blood to the lungs. The branches leading to the lungs may take a variety of forms, and may exit the single large vessel from different spots. The size and location of these vessels are important factors for the surgeon to consider when planning the operation. There is also a large hole in the wall that separates the right and left ventricles called a ventricular septal defect or VSD. This hole allows complete mixing of blue and red blood in the ventricles. Other heart problems that may be seen in association with truncus arteriosus include leakage of the truncal valve, abnormal coronary arteries, and/or narrowing or complete interruption of the aortic arch. About 33% of babies with truncus arteriosus have a genetic problem called DiGeorge syndrome. This occurs when part of chromosome is lost during the earliest stages of fetal life. In addition to heart problems, children with DiGeorge syndrome may have decreased ability to resist viral infections, low blood calcium, cleft palate, kidney problems, changes in facial features, and learning problems.

Effects

Truncus arteriosus is a serious heart problem that is usually diagnosed during early infancy. If not treated, 85% babies die during the first year of life. The main problem caused by the defect is too much blood flow to the lungs causing congestive heart failure with symptoms of rapid breathing, clammy sweating, poor feeding, and slow growth. These symptoms are usually seen within the first few days to weeks of life. Cyanosis, a bluish color seen in the lips and nailbeds is also usually present due to mixing of blue and red blood in the ventricles. Due to the extent of the problems caused by truncus arteriosus, open-heart surgery is usually done as soon as possible.

Diagnosis

Prenatal diagnosis: Truncus arteriosus can be diagnosed before birth by a fetal echocardiogram or heart ultrasound as early as 18 weeks into the pregnancy. This test is done when there is a family history of congenital heart disease or when a question is raised during a routine prenatal ultrasound. Symptoms: Symptoms of congestive heart failure most often develop within days or week of birth and are worse when there are other problems such as leakage of the truncal valve or a narrow aortic arch. Symptoms of congestive heart failure in infants include rapid breathing, clammy sweating, poor feeding, and poor growth. Mild cyanosis, a bluish color of the baby’s lips and nailbed, is most often present but can be difficult to detect by looking at the baby. Physical findings: Most babies with truncus arteriosus are born at term and are a normal weight and length (since before birth the baby’s oxygen comes from the mother). After birth, the baby’s lips and fingernails may look blue. A heart murmur is most often present. If congestive heart failure is present, the heart rate and breathing rate will be increased, and the liver may be enlarged. Medical tests: The suspected diagnosis is confirmed by an echocardiogram. An oxygen saturation test is used to measure the blood oxygen levels. Other tests include an electrocardiogram and chest x-ray. Sometimes, a heart catheterization may is needed to help the doctors plan the surgery.

Treatment

The main treatment for truncus arteriosus is open-heart surgery, done as soon as possible after the diagnosis is made. The operation uses a conduit which is a tube made of either Dacron with a pig valve inside it or a donated human valve and artery (called a homograft valve). One end of the conduit/homograft is sewn into the right ventricle and the other end is sewn into the pulmonary artery. The branch vessels leading to the lungs are removed from the truncus and sewn into the conduit. Sometimes repair or replacement of the truncal valve is needed as well. The VSD is also closed by sewing a patch over it. Medicines such as digoxin and lasix are often used to treat symptoms of congestive heart failure. Most children with truncus arteriosus will need their conduit/homograft replaced one to two times before they reach adulthood. This is needed because the child "outgrows" the conduit and also because calcium tends to collect in the conduit causing a narrowing and thus obstruction to blood flow. Fortunately, re-operation to replace the conduit is usually tolerated well and carries a low risk for complications.

Prognosis

In leading centers, the surgical success for early repair of truncus arteriosus in babies has improved greatly with 90% survival. Re-operation to replace the conduit will be needed periodically but these operations are quite low risk to the child. Possible long-term medical problems for children born with truncus arteriosus include conduit obstruction and/or leakage of the truncal valve requiring re-operation. SBE prophylaxis: Throughout their lives, children with truncus arteriosus are at increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. Children with heart defects are more prone to this problem because of the altered flow of blood through the heart. It can occur after dental work or medical procedures on the GI or respiratory tract because these procedures almost always result in some bacteria entering the blood. SBE can usually be prevented by taking an antibiotic before these procedures. Exercise guidelines: An individual exercise program is best planned with the doctor so that all factors can be included. Children with truncus arteriosus are usually restricted from vigorous or competitive sports but can participate in recreational sports. It is important for them to always be able to self-limit their activity, that is, to rest whenever they feel the need to do so. The children can usually participate in gym class but should be allowed to self-limit their level of exertion and they should not be graded (which could increase the pressure to exceed their natural limits).

Ventricular Septal Defect

Description

A ventricular septal defect (VSD) is a defect or hole in the wall that separates the lower two chambers of the heart. These chambers are called the ventricles and the wall separating them is called the ventricular septum. A child can have single or multiple ventricular septal defects. Ventricular septal defects also occur in association with more complex heart defects such as Tetralogy of Fallot and transposition of the great vessels. The information on this page applies to patients with a ventricular septal defect and an otherwise normal heart. Ventricular septal defects can be further described by 1) size of the defect, 2) location of the defect, 3) whether there is more than one defect present, and 4) the presence or absence of a ventricular septal aneurysm. The size of the defect is usually described as small, moderate, or large. In general, small defects cause no symptoms during infancy or childhood and often close spontaneously. Moderate and large defects are less likely to close spontaneously, may result in congestive heart failure, and more often require surgical closure. Sometimes, the term restrictive or non-restrictive are used to describe the size of the defect. The term restrictive describes small defects that allow little or no blood to flow from the left side of the heart to the right side of the heart. Non-restrictive defects are large defects that allow a significant amount of blood to flow from the left side to the right of the heart. This results in excessive blood flow to the lungs, high pulmonary artery pressures, extra work for the heart, and congestive heart failure. Different systems for describing the location of ventricular septal defects are used. Some are located in the lower portion of the septum called the muscular septum. Defects in this location are called muscular ventricular septal defects. Perimembranous ventricular septal defects (also called membranous VSD'S) are located in the membranous septum, a relatively small portion of the septum located near the heart valves. Ventricular septal defects may also be described as inlet or outlet VSDs. These terms further describe where the defect is located. Inlet VSDs are located close to where the blood enters the ventricular chamber and outlet VSDs are located close to where the blood exits the ventricular chamber. Sometimes a ventricular septal aneurysm is seen when the echocardiogram is done. This is a thin flap of tissue that causes no harm and may increase the chances that the defect will close spontaneously.

Effects

In general, the effects of a ventricular septal defect are related to the size of the defect. As described previously, small ventricular septal defects do not cause symptoms in infancy or childhood and rarely require surgical or medical treatment. The majority of muscular VSDs close spontaneously during early childhood. Membranous VSDs can close at any time if a ventricular septal aneurysm is present. Small ventricular septal defects are not expected to affect the child's growth or development. Usually, the primary significance of a small ventricular septal defect is a slightly increased risk for subacute bacterial endocarditis (SBE). This is an infection of the heart caused by bacteria in the blood stream. It most commonly occurs after a dental or other medical procedure and can usually be prevented by a dose of antibiotic prior to the procedure. The effects of larger ventricular septal defects result from the shunting of blood across the defect causing excessive blood flow to the lungs. Ordinarily, the resistance or pressure on the heart's left side is much higher than the pressure on the heart's right side. When there is a large defect, the blood takes the "path of least resistance" and goes back to the right ventricle instead of out to the body. This results in pulmonary overcirculation and extra work for the heart. When the heart is unable to meet this extra work load, symptoms of congestive heart failure develop including excessive sweating (a cold, clammy sweat often noted during feeding), poor feeding, slow weight gain, irritability or lethargy, and/or rapid breathing. If this occurs medicines will usually be started (see treatment options). If the medicines aren't effective, surgery is usually recommended. A very small number of ventricular septal defects located near the pulmonary valve can result in damage to the aortic valve. When this occurs the aortic valve starts to leak. Since the leakage usually progresses over time, surgical closure of the defect is often recommended even if the defect is small. Participation in physical activities and sports: Exercise recommendations are best made by the patient's doctor so all so that all relevant factors can be included in the decision. If otherwise healthy, children with small ventricular defects and those with repaired ventricular defects can participate fully in physical activities including vigorous and competitive athletics.

Diagnosis

Clinical findings: Most newborns with VSD do not have heart related symptoms. If the defect is moderate to large in size, symptoms of congestive heart failure usually develop during the first 1 to 2 months of life. Physical findings: A heart murmur is often the first clue that a child has a VSD. In many children, the murmur is heard right after birth but it may not be heard until the child is 6 to 8 weeks of age. If the child is in congestive heart failure, there will be poor weight gain, the heart rate and breathing rate will be higher than normal, and the liver will be enlarged. Medical tests: Medical tests that provide helpful information include an electrocardiogram, oxygen saturation test, and chest x-ray. The diagnosis is confirmed by an echocardiogram. If there are questions about the child's heart anatomy that can't be answered by the echocardiogram or if the child's symptoms seem out of proportion to the size of the defect, a heart catheterization may be done.

Treatment

As described earlier, small ventricular septal defects do not cause symptoms so generally treatment (other than SBE prophylaxis) is not needed. Usually, ventricular septal defects diagnosed in infancy get smaller with time and even large defects can close completely. If the child develops congestive heart failure, treatment is needed. This involves the use of medications to decrease the work of the heart and increase the strength of the heart beat. Medications that may be used include digoxin, diuretics, and afterload reducers. These medications often control the symptoms until the child gets bigger and the defect gets smaller or closes altogether. If the child's symptoms cannot be controlled by medications, surgical repair will be considered. Often the need for surgery is demonstrated most convincingly by the child's inability to gain weight. Even if the symptoms are minimal, surgical closure is recommended for any defect that is big enough after the first year or two of life to allow excessive pulmonary blood flow. This is to prevent a very serious long term complication called pulmonary vascular obstructive disease. Surgical repair of a ventricular septal defect involves open heart surgery and placement of a prosthetic patch, sutured in placed, that covers the defect. The heart tissue grows over the patch so the heart never "outgrows" it.

Prognosis

Overall, the outlook for a child with a ventricular septal defect is excellent. As previously described the majority of defects close on their own or are small so that treatment is not needed. Surgical results are also excellent. If the child has only a ventricular septal defect and an otherwise normal heart, the operative mortality approaches 0%. Major complications are rare and include heart block and incomplete closure of the defect. The incidence of major complications is less than 1%.