In 1 in 100 births, an infant is born with a defect or malformation of the heart, called congenital heart disease. This birth defect needs to be carefully monitored: Some cases require surgery, while others eventually heal on their own.

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Doctors usually first pinpoint congenital heart disease by detecting a murmur, or an unusual sound, when listening to the heartbeat. Another screening, such as an echocardiogram, chest x-ray, or cardiac MRI scan, is used to make a diagnosis. But because some types of congenital heart disease don’t produce any symptoms, many cases go undetected until well into adulthood.

One of the most common types of congenital heart disease is a septal defect, or a hole in the partition between the right and left atria or ventricles of the heart. Other types of disorders are heart valve problems, such as mitral, tricuspid, pulmonic, or aortic stenosis. These occur when one of the valves narrows, blocking the flow of blood into or through the heart, depriving the body or lungs of adequate bloodflow, and stressing the heart muscle. Yet another type of disorder is the transposition, or switching, of the aorta and the pulmonary artery, reducing the amount of oxygenated blood that reaches the tissues.

Experts aren’t sure what, exactly, leads to congenital heart defects, but research shows that newborns with genetic abnormalities, such as Down syndrome, are at increased risk. Babies are also more likely to have a heart defect when the mother takes certain prescription medications or abuses drugs or alcohol during early pregnancy or is affected by a viral infection, such as rubella, during the first trimester. Treatments for congenital heart disease, which depend on the type and severity of the defect, include prescription medications and surgical procedures. If left untreated, congenital heart disease can lead to hypertension, heart infections, and even heart failure.

ADDITIONAL FACTS

  1. In the 1970s, nearly one in three surgeries to repair congenital heart defects ended in death. But, thanks to medical advances, deaths have dropped to only 5 percent.
  2. Heart defects that lead to oxygen deprivation in the blood are called cyanotic, a word derived from the Greek word for “blue.” When a heart defect shunts blood away from the lungs, oxygen deprivation in the blood can tint skin a blue color.
  3. Babies with cyanotic heart disease used to be called blue babies.