How is congenital heart disease diagnosed?

While serious congenital heart defects are generally identified during pregnancy or soon after birth, less severe defects are not diagnosed until children are older.

Babies and children who are suspected of having a heart defect are usually referred to a pediatric cardiologist (children’s heart disease specialist). This doctor can do a physical examination and often recommends one or more of the following tests:

  • Chest X-ray 
  • Electrocardiogram, a test that records heart rate patterns 
  • Echocardiogram, a special form of ultrasound that uses sound waves to take pictures of the heart

All of these tests are painless and noninvasive (nothing enters the child’s body).

Some children with heart disease also may need to undergo a procedure called cardiac catheterization. In this procedure, a thin, flexible tube is inserted into the heart after the child is given medications to make him sleepy. This test provides detailed information about the heart and how it is working.