Serious congenital heart defects in infants are often diagnosed during pregnancy or soon after birth. Doctors may find a minor defect later in a child’s life, sometimes during a routine physical exam. If a pediatrician suspects a problem with a child’s heart, he or she may order diagnostic tests or refer the child to a pediatric cardiologist.

What Is a Congenital Heart Defect?

diagnosing congenital heart defectsCongenital defects are abnormalities in the heart’s structure at or before birth. There are different types of defects, any of which may change the flow of blood through the heart.

Some defects are simple, have no symptoms and don’t need treatment. Others may require surgery to correct the problem. Heart defects are relatively common. Eight out of every 1,000 babies in the U.S. are born with heart problems according to the National Institutes of Health.

Physical Exams and Diagnostic Tests

A pediatrician uses a stethoscope to listen to a child’s heart and lungs. The physician will look for symptoms of heart problems. Signs of a heart defect include shortness of breath, delayed growth and cyanosis. Cyanosis is when the skin, lips and fingernails look blue.

The pediatrician may want a child to have further tests. Some tests used to look for defects are:

  • Echocardiography: This test creates a moving picture of the heart. Sound waves bounce off the heart’s structures and are converted into images. Doctors examine the image, looking for problems. Fetal echocardiography can be done during pregnancy to create a picture of an unborn baby’s heart. A fetal echo is often done 18-22 weeks into a pregnancy.
  • EKG (Electrocardiogram): An EKG records the heart’s electrical activity. Doctors can see the speed and rhythm of the heartbeat using this test. EKG’s are used to check for enlarged heart chambers which may indicate a problem.
  • X-Ray: A chest X-ray creates an image of the internal organs. An X-ray will show if a heart is enlarged, or if the lungs show symptoms of heart problems.
  • Pulseoximetry: This test estimates the amount of oxygen in the blood by placing a sensor on a finger or toe.
  • Cardiaccatheterization: A tube, or catheter, is inserted into a vein and threaded into the heart. Dye is injected through the catheter. An X-ray shows doctors how the dye-stained blood is flowing through the vessels and heart.