Most people with congenital heart disease are diagnosed and treated in infancy, though some congenital defects are not detected until adulthood. Major surgical and medical advances have improved the effectiveness of treatments for babies born with congenital heart disease, allowing more to reach adulthood. As a result, there are now more adults living with heart defects than children.
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NYU Langone doctors manage many types of congenital heart diseases in adults. They range from less complicated conditions, such as holes within the heart, to more complex defects, including obstructions in the heart, the transposition of major arteries, and conditions that result in a person having only one pumping chamber in the heart.
Some of these conditions cause problems with the heart’s pulmonary valve, tricuspid valve, mitral valve, or aortic valve. The heart may not develop properly, preventing blood from flowing normally through or from the heart. Other conditions affect the heart’s chambers or the veins or arteries that connect the heart and lungs.
There are several types of congenital heart defects that are more likely than others to be diagnosed or managed during adulthood. They include atrial septal defect, ventricular septal defect, pulmonary stenosis, tetralogy of Fallot, patent ductus arteriosus, coarctation of the aorta, Ebstein’s anomaly, and single ventricle defects and the Fontan circulation.
In babies with atrial septal defects, the septum—the wall that separates the two upper chambers of the heart—does not develop correctly. Blood that should flow from the atrium to the ventricle, meaning from the upper chamber to the lower chamber, instead flows from the left side of the heart to the right through a hole in the septum. As a result, blood flow to the lungs increases.
Small holes in the septum can go undetected until adulthood. Atrial septal defects may be detected during a physical examination, when your doctor hears a heart murmur.
Symptoms of atrial septal defect include exercise intolerance—meaning you tire easily while exercising—and arrhythmias, which are irregular heart rhythms that may feel like heart palpitations or fast heartbeats.
Atrial septal defects can lead to heart failure, when the heart doesn’t pump enough blood to the body, or a defect can cause a clot to pass through the hole, leading to a stroke.
Rarely, untreated atrial septal defects can lead to pulmonary hypertension, which is elevated blood pressures in the lungs, and Eisenmenger syndrome. This occurs when increased pressure causes blood flow to bypass the lungs, sending poorly oxygenated blood to the rest of the body.
A ventricular septal defect is a hole in the wall that separates the lower two chambers of the heart, called the ventricles. It allows increased amounts of blood to flow through the hole to the lungs.
In many people born with a ventricular septal defect, the hole closes on its own during childhood. In others, the hole is too small to cause symptoms. If the hole is large, people may experience symptoms, including shortness of breath and rapid heart rates.
Over time, this heart defect can cause the left side of the heart to enlarge. In some adults, large ventricular septal defects can cause a reversal of blood flow that bypasses the lungs, leading to Eisenmenger syndrome.
Pulmonary stenosis is a narrowing of the pulmonary valve, or an area near the pulmonary valve, that prevents blood from flowing to the lungs. This condition is associated with arrhythmias and heart failure.
Patients with the tetralogy of Fallot have been diagnosed with four components—a tetralogy: a ventricular septal defect; an overriding aorta, in which blood from both ventricles enters the aorta rather than blood only from the left ventricle; a thickening of the heart’s right ventricle; and pulmonary stenosis.
Most people have repairs for this condition in childhood. Sometimes, these repairs can lead to a leaky pulmonary valve in adulthood. Other problems may include heart failure and heart rhythm disorders. Symptoms can include dizziness, irregular or fast heartbeats, fainting, or exercise intolerance.
Before birth, the blood on the right side of the heart bypasses the lungs and reaches the aorta through a vessel called the ductus arteriosus. In most babies, this vessel closes shortly after birth and blood receives oxygen from the lungs. In some, however, the connection between the pulmonary artery and the aorta remains open and blood flows backwards. This is a condition called patent ductus arteriosus.
It is more common in babies whose mothers had rubella, or German measles, while pregnant and in babies born prematurely, before 37 weeks of pregnancy.
Patent ductus arteriosus may be detected when a doctor hears an irregular sound called a heart murmur during a physical examination.
Though some people don’t experience symptoms, others have shortness of breath, heart palpitations, and exercise intolerance.
Left open, a large patent ductus arteriosus may lead to heart failure, pulmonary hypertension, or Eisenmenger syndrome.
Coarctation of the aorta is a narrowing of a portion of the longest artery in the body. If the narrowing is severe, it can cause heart failure in babies. In adults, it is commonly associated with hypertension, or high blood pressure, and decreased blood flow to the lower extremities, causing leg cramps.
This condition is frequently associated with a bicuspid aortic valve, which is a heart valve that has two leaflets, or flaps, instead of three. Coarctation of the aorta may increase the risk of atherosclerosis, a buildup of a waxy substance called plaque—composed of cholesterol, fat, and calcium—in the arteries.
In people with Ebstein’s anomaly, the tricuspid valve is abnormally developed, preventing this heart valve from closing properly and causing blood to leak backward from the right ventricle into the right atrium.
The backup of blood flow can cause the heart to enlarge, leading to heart failure. This condition is often associated with an atrial septal defect and heart rhythm disorders.
Congenital heart defects in which only one of the heart’s two ventricles is fully formed are called single ventricle defects. Often, a heart valve is missing.
Children diagnosed at birth with a single ventricle defect are treated with multiple, staged surgeries to create a new configuration called the Fontan circulation, in which blood passes from the veins—instead of the ventricle—to the pulmonary artery and then to the lungs. Oxygenated blood returns from the lungs to the heart, where it is pumped to the body by the ventricle. Adults with the Fontan circulation can develop heart rhythm disorders, blood clots, heart failure, or liver disease.
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