Congenital Heart Disease

Q: What is congenital heart disease? How is it diagnosed?

A: Congenital heart disease is defects present at birth and malformations of the heart muscle, chambers of the heart, valves of the heart, or blood vessels that lead to and from the heart. Most heart defects either block blood flow or cause blood to flow in an abnormal pattern. Common heart defects include valves that do not open or close correctly and holes in the walls between the heart’s chambers. In most cases of congenital heart disease, the cause is unknown. Some heart conditions in babies are genetic and could be passed down from the mother or father.

While most congenital heart conditions are diagnosed after birth, it is possible to use ultrasound to make a diagnosis before birth. Diagnosis after birth can be accurately made in most cases with cardiac ultrasound or cardiac magnetic resonance imaging (MRI). Many of these conditions can be treated effectively with surgery.

Jennifer H. Mieres, M.D., is director of nuclear cardiology and associate professor of clinical medicine at New York University. She’s also a spokesperson for the American Heart Association.