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Congenital Heart Disease

Overview :

Congenital heart disease occurs when the heart or blood vessels near the heart do not develop properly before birth. Some infants are born with mild types of congenital heart disease, but most need surgery in order to survive. Patients who have had surgery are likely to experience other cardiac problems later in life.

Most types of congenital heart disease obstruct the flow of blood in the heart or the nearby vessels, or cause an abnormal flow of blood through the heart. Rarer types of congenital heart disease occur when the newborn has only one ventricle, or when the pulmonary artery and the aorta come out of the same ventricle, or when one side of the heart is not completely formed.

Patent ductus arteriosus

Patent ductus arteriosus refers to the opening of a passageway—or temporary blood vessel (ductus)—to carry the blood from the heart to the aorta before birth, allowing blood to bypass the lungs, which are not yet functional. The ductus should close spontaneously in the first few hours or days after birth. When it does not close in the newborn, some of the blood that should flow through the aorta then returns to the lungs. Patent ductus arteriosus is common in premature babies, but rare in full-term babies. It also has been associated with mothers who had German measles (rubella) while pregnant.

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome, a condition in which the left side of the heart is underdeveloped, is rare, but it is the most serious type of congenital heart disease. With this syndrome, blood reaches the aorta, which pumps blood to the entire body, only from the ductus, which then normally closes within a few days of birth. In hypoplastic left heart syndrome, the baby seems normal at birth, but as the ductus closes, blood cannot reach the aorta and circulation fails.

Obstruction defects

When heart valves, arteries, or veins are narrowed, they partly or completely block the flow of blood. The most common obstruction defects are pulmonary valve stenosis, aortic valve stenosis, and coarctation of the aorta. Bicuspid aortic valve and subaortic stenosis are less common.

Stenosis is a narrowing of the valves or arteries. In pulmonary stenosis, the pulmonary valve does not open properly, forcing the right ventricle to work harder. In aortic stenosis, the improperly formed aortic valve is narrowed. As the left ventricle works harder to pump blood through the body, it becomes enlarged. In coarctation of the aorta, the aorta is constricted, reducing the flow of blood to the lower part of the body and increasing blood pressure in the upper body.

A bicuspid aortic valve has only two flaps instead of three, which can lead to stenosis in adulthood. Subaortic stenosis is a narrowing of the left ventricle below the aortic valve that limits the flow of blood from the left ventricle.

Septal defects

When a baby is born with a hole in the septum (the wall separating the right and left sides of the heart), blood leaks from the left side of the heart to the right, or from a higher pressure zone to a lower pressure zone. A major leakage can lead to enlargement of the heart and failing circulation. The most common types of septal defects are atrial septal defect, an opening between the two upper heart chambers, and ventricular septal defect, an opening between the two lower heart chambers. Ventricular septal defect accounts for about 15% of all cases of congenital heart disease in the United States.

Cyanotic defects

Heart disorders that cause a decreased, inadequate amount of oxygen in blood pumped to the body are called cyanotic defects. Cyanotic defects, including truncus arteriosus, total anomalous pulmonary venous return, tetralogy of Fallot, transposition of the great arteries, and tricuspid atresia, result in a blue discoloration of the skin due to low oxygen levels. About 10% of cases of congenital heart disease in the United States are tetralogy of Fallot, which includes four defects. The major defects are a large hole between the ventricles, which allows oxygen-poor blood to mix with oxygen-rich blood, and narrowing at or beneath the pulmonary valve. The other defects are an overly muscular right ventricle and an aorta that lies over the ventricular hole.

In transposition (reversal of position) of the great arteries, the pulmonary artery and the aorta are reversed, causing oxygen-rich blood to re-circulate to the lungs while oxygen-poor blood goes to the rest of the body. In tricuspid atresia, the baby lacks a triscupid valve and blood cannot flow properly from the right atrium to the right ventricle.

Other defects

Ebstein's anomaly is a rare congenital syndrome that causes malformed tricuspid valve leaflets, which allow blood to leak between the right ventricle and the right atrium. It also may cause a hole in the wall between the left and right atrium. Treatment often involves repairing the tricuspid valve. Ebstein's anomaly may be associated with maternal use of the psychiatric drug lithium during pregnancy.

Brugada syndrome is another rare congenital heart defect that appears in adulthood and may cause sudden death if untreated. Symptoms, which include rapid, uneven heart beat, often appear at night. Scientists believe that Brugada syndrome is caused by mutations in the gene SCN5A, which involves cardiac sodium channels.

Infants born with DiGeorge sequence can have heart defects such as a malformed aortic arch and tetralogy of Fallot. Researchers believe DiGeorge sequence most often is caused by mutations in genes in the region 22q11.

Marfan syndrome is a connective tissue disorder that causes tears in the aorta. Since the disease also causes excessive bone growth, most Marfan syndrome patients are over six feet tall. In athletes, and others, it can lead to sudden death. Researchers believe the defect responsible for Marfan's syndrome is found in gene FBN1, on chromosome 15.

About 32,000 infants are born every year with congenital heart disease, which is the most common birth defect. About half of these cases require medical treatment. More than one million people with heart defects are currently living in the United States.

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