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

About 1 in 125 infants in the United States are born with congenital heart disease. Congenital heart defects (CHD) are heart problems that are present in a child before birth and the most common type of birth defect. 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. 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.

Early identification of CHD is an opportunity to provide life-saving treatment. Most life-threatening heart malformations are identified through prenatal ultrasounds. Infant screens performed in the hospital nursery provide an additional opportunity for early identification. Universal infant screening are performed routinely in the newborn nursery at Saint Francis Family BirthPlace, including screenings to detect heart problems. As medical care and treatment have advanced, babies with a CHD are living longer and healthier lives.

Possible Causes

In most cases, researchers do not know what causes these heart defects. However, there are a few factors that appear to play roles:


Researchers have found that children are more likely to have congenital heart disease if a parent or sibling also has it. 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, it can also put him or her at greater risk for congenital heart disease.

Taking certain medications or drugs during pregnancy

Medications such as acne medication isotretinoin, 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, this may increase her baby’s risk of developing a heart defect. It is important to control diabetes during pregnancy, making sure blood sugar is at an appropriate level before trying to become pregnant.

Most Common Congenital Heart Defects

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

Signs and Symptoms

Signs and symptoms for CHDs depend on the type and severity of the particular defect. Some defects might have few or no signs or symptoms. Others might cause a baby to have the following symptoms:

  • Blue-tinted nails or lips
  • Fast or troubled breathing
  • Tiredness when feeding
  • Sleepiness

To schedule an appointment with a Saint Francis pediatric provider close to you, call 573-334-9641.

If you are an adult interested in a heart check up, call Cape Cardiology Group at 573-331-3333. No referral is needed.

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