At least 1 million adults in the United States have congenital heart defects. They are not typical patients with disease – instead, their problems involve physiological abnormalities of the heart and its blood vessels.
Congenital heart defects are simple, complex and super-complex. The simple form includes the most common defect: the septum hole. The heart has two sides, right and left, and the septa separate these sides from each other, preventing deoxygenated blood on the right side from mixing with oxygenated blood on the left.
When a septum has one or more holes, the heart cannot pump blood as efficiently as it would normally. Some septum holes, especially those between the ventricles (lower heart chambers), tend to close on their own without surgery. Other holes, especially those between the atria (upper heart chambers), are bigger. These holes often require a procedure in which a surgeon makes a small incision and works through a catheter (a small tube) to patch the hole with a metal prosthesis.
An example of the complex form of a congenital defect is tetralogy of Fallot. Infants with tetralogy of Fallot have these problems:
- a large hole in the ventricular septum
- an aorta attached to both ventricles, instead of just the left ventricle (This “double attachment” allows deoxygenated blood to dilute the oxygenated blood traveling from the left ventricle to the rest of the body.)
- a narrowing of the pulmonary artery, which functions to move deoxygenated blood from the right ventricle to the lungs
- a thickened right ventricle wall
Together, these defects make the heart struggle to pump enough oxygenated blood to the body’s tissues. Infants with this disorder have bluish skin (blood without oxygen is blue) and sometimes have difficulty breathing. Tetralogy of Fallot defects are usually corrected with surgery in infancy. Additional surgical repairs to those procedures might be needed in adulthood.
An example of the super-complex congenital heart defect is transposition of the great vessels. The aorta and pulmonary artery are each attached to the heart in place of the other: The aorta is attached to the right ventricle instead of the left, so it sends deoxygenated blood back to the body, bypassing the lungs. Similarly, the pulmonary artery is attached to the left ventricle instead of the right, so oxygenated blood runs in a closed loop between the ventricle and lungs, bypassing the body.
Infants can survive this disorder for a few days because two “leak points” exist between the left and right portions of the fetal heart. These leak points, which close several days after birth, allow a small amount of oxygenated blood to reach the body. An infant with transposed vessels always requires immediate surgery.
Nearly one percent of children are born with a heart defect. In 1940, 80 percent of children with the rarer congenital heart defects died before reaching adulthood. Now more than 80 percent survive into adulthood, thanks to advances in cardiac surgery. Because of these gains, and because childhood cardiac surgeries often need follow-up repairs years later, the need is growing for treatment of congenital heart defects among adults.
SymptomsFor most patients, congenital heart defects are surgically repaired in childhood. (This is always true of those with the complex and super-complex forms.) If problems recur in adulthood, these patients might experience palpitations (abnormal heart rhythms), a diminished ability to exercise, shortness of breath and chest pain.
For many congenital heart diseases, the likelihood of recurring symptoms increases with age, as childhood surgical repairs begin to fail.
Despite the need for constant checkups, many young adult patients develop the perception that they have been “cured” of their defect. As a result, many young adults with repaired defects do not monitor heart symptoms as closely as they should.
CausesScientists assume that all congenital heart disorders have some genetic origin, although the exact mechanism of inheritance is not clear. It is known that children of parents with congenital heart defects are much more likely to be born with a heart defect. For unknown reasons, people with the genetic disorder Down syndrome are more likely to have congenital heart disease.
Risk FactorsThe only known risk factor for congenital heart disease is having a parent with the same disorder.
DiagnosisIn almost all cases, diagnosis is made by echocardiography – a way of imaging the heart using ultrasound waves. Other tests might include cardiac catheterization (in which a small camera is threaded through a blood vessel into the heart to project images of potential defects) and magnetic resonance imaging (MRI). Tests such as X-rays and electrocardiograms (ECG) might be abnormal and provide clues that a heart defect exists.
ComplicationsSome adults with congenital heart disease can develop heart failure, heart arrhythmias and chest pain. Some complications are caused by cardiac scar tissue left over from childhood heart surgeries. However, careful monitoring by an adult cardiologist who specializes in congenital heart defects can minimize symptoms and complications for many patients.
RecoveryWhen patients with congenital heart defects reach adulthood, many do not regularly visit a cardiologist, or visit a cardiologist who does not specialize in congenital heart defects. Thus, the most important component of self-care is getting regular cardiac checkups by a heart-defect specialist. Patients also can manage disease better by taking medications as prescribed, exercising within prescribed limits and eating healthy food.