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Present at Birth: Researchers Are Still Learning About Congenital Heart Disease

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About 1 in 125 infants in the United States are born with congenital heart disease. Congenital heart defects are heart problems that are present in a child before birth. Heart defects may produce symptoms at birth, during childhood, or not until adulthood. Some congenital heart defects never produce any symptoms and are found only upon examination for an unrelated problem. In most cases, researchers do not know what causes these heart defects. However, there are a few factors that appear to play roles:

Genetics: “Researchers have found that children are more likely to have congenital heart disease if a parent or sibling also has it,” says William K. LaFoe, MD, FACC, FSCAI, interventional cardiologist at Saint Francis Medical Center. “Since the 1990s, scientists have found about 10 gene mutations that can cause specific heart defects. If a child has a chromosomal abnormality at birth, such as Down syndrome, that can also put him or her at greater risk for congenital heart disease.”

Taking certain medications or drugs during pregnancy: Medications such as the acne medication isotretinoin (Accutane), the skin disorder drug thalidomide and certain anti-seizure medications may increase a woman’s risk of having a child with congenital heart disease.

Chronic illnesses in the mother: If a woman has diabetes, she may increase her baby’s risk of developing a heart defect. “This is why it is important to control diabetes during pregnancy,” says LaFoe. “A woman needs to make sure her blood sugar is at an appropriate level before trying to become pregnant.”

The most common congenital heart problems include:

  • Heart valve defectsLafoe-William_MG_0115
  • Defects in the walls between the atria and ventricles of the heart
  • Heart muscle abnormalities that can lead to heart failure

Doctors usually can detect most of these problems by listening for an abnormal sound in your heart. Depending on the severity of the defect, doctors may choose to watch and wait, treat with medications or perform surgery. “If you discover you have a congenital heart defect, it is important to see a cardiologist regularly,” says LaFoe.

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