Pediatric Tests for Congenital Heart Disease

If your doctor suspects your child may have been born with a heart defect or acquired heart disease, your child may be referred to a pediatric cardiologist.

The pediatric cardiologist may suggest tests to diagnose or rule out congenital (present at birth) or acquired heart disease. In some cases, a pediatric interventional cardiologist will perform these tests—a cardiologist with additional training in diagnosing and treating conditions using thin, flexible tubes called catheters guided through the body’s arteries and veins. Interventional cardiology procedures are less invasive than surgery, requiring only a small puncture site in the skin.

Common tests used in diagnosing children's heart disease are listed below. These same tests are used for adult patients who may have undiagnosed congenital heart disease (CHD) and for adults who acquire heart disease later in life.

• Angiogram/cardiac catheterization – This test involves an X-ray dye being injected into the heart and blood vessels to confirm the diagnosis and obtain information about the pressures and oxygen saturation levels in the different structures and to see how well the blood flows and the heart pumps.
• Echocardiogram – This test uses sound waves to create a picture of the heart muscles, valves, and blood vessels in motion and is crucial in assessing whether all areas of the heart are contracting well.
• Electrocardiogram (ECG/EKG) – This test records the electrical activity in the heart and can detect abnormalities in the heart's rhythm and certain patterns that may suggest portions of the heart that may not be getting enough blood flow.
• Cardiac magnetic resonance imaging (MRI) – This imaging test creates 2D, 3D, or 4D (flow over time) images of the heart and blood vessels. These images provide a more precise assessment of the severity and location of any blockages in the arteries.
• Computerized tomography (CT) scan – This test uses X-rays to take detailed cross-sectional images of the arteries and heart. The test also uses a contrast dye to help identify problems with the heart or blood vessels.
• Electrophysiology (EP) study (ablation procedure) – This test is used to assess the heart’s electrical pathways, identify causes of abnormal heart rhythms (arrhythmias), and provide therapies (called an ablation) to fix abnormalities in the electrical system of the heart.
• Pulse oximetry screening (for babies) – This test is performed on all newborn babies to determine the oxygen level in their blood.
• Stress test – This test can identify problems that may be more visible when the heart muscle is working harder. It usually involves asking a patient to exercise on a treadmill or stationary bike or to take medications that will make the heart respond as if the patient is exercising.