How Are Congenital Heart Defects Diagnosed?

Serious congenital heart defects are generally identified during pregnancy or soon after birth. Less severe defects aren’t diagnosed until children are older. Minor defects often have no symptoms and are diagnosed based on results from a physical exam and special tests done for another reason.

Specialists Involved

Doctors who specialize in the care of babies and children who have heart problems are called pediatric cardiologists. Other specialists who treat heart defects in children include cardiac surgeons (doctors who repair heart defects using surgery).

Physical Exam

During a physical exam, the doctor:

• Listens to your child’s heart and lungs with a stethoscope
• Looks for other signs of a heart defect, such as cyanosis (a bluish tint to the skin, lips, or fingernails), shortness of breath, rapid breathing, delayed growth, or signs of heart failure

Tests Commonly Used To Diagnosis Congenital Heart Defects

Echocardiogram

This test, which is harmless and painless, uses sound waves to create a moving picture of your child’s heart. During an echocardiogram, reflected sound waves show the structure of the heart. The test allows the doctor to clearly see any problem with the way the heart is formed or the way it’s working.

An echocardiogram is an important test for both diagnosing a heart problem and following the problem over time. In children with congenital heart defects, an echocardiogram will outline the problems with the heart’s structure and show how the heart is reacting to these problems. The echocardiogram will help your child’s cardiologist decide if and when treatment is needed.

During pregnancy, if your doctor suspects that your baby has a congenital heart defect, a special test called a fetal echocardiogram can be done. This test uses sound waves to create a picture of the baby's heart while the baby is still in the womb. The test is usually done during the fourth or fifth month of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born.

EKG (Electrocardiogram)

An EKG detects and records the electrical activity of the heart. An EKG shows how fast the heart is beating and whether the heart’s rhythm is steady or irregular. It can also detect if one of the heart’s chambers is enlarged, which can help diagnose a heart problem.

Chest X Ray

A chest x ray takes a picture of the heart and lungs. It can show whether the heart is enlarged or whether the lungs have extra blood or fluid, which can be a sign of heart failure.

Pulse Oximetry

Pulse oximetry shows how much oxygen is in the blood. A sensor is placed on the child’s fingertip or toe (like an adhesive bandage). The sensor is attached to a small computer unit, which displays a number that indicates how much oxygen is in the blood.

Cardiac Catheterization

During cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin, flexible tube called a catheter is passed through a vein in the arm, groin (upper thigh), or neck to reach the heart. A dye that can be seen on an x ray is injected through the catheter into a blood vessel or a chamber of the heart. This allows the doctor to see the flow of blood through the heart and blood vessels.

Cardiac catheterization also can be used to measure the pressure inside the heart and blood vessels and to determine whether blood is mixing between the two sides of the heart. It’s also used to repair some heart defects.