Congenital Heart Defects Diagnosis

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Some congenital heart defects are diagnosed during pregnancy or soon after birth. Others may not be diagnosed until adulthood. A doctor will do a physical exam to looks for symptoms of a congenital heart defect. Based on what they find, they may order tests to confirm their diagnosis.

You or your baby may need one or more of the following tests to determine whether symptoms are caused by a congenital heart defect:

• Echocardiography or echo is a painless test that uses sound waves to create moving pictures of the heart. It can help diagnose a heart defect or be used to follow progress over time. Echocardiography used during pregnancy (fetal echocardiography) can sometimes be used to help find a congenital heart defect before a baby is born
• Electrocardiogram (EKG or ECG) to evaluate the rhythm of the heartbeat
• Cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is flowing from the left side of the heart into the right side of the heart, instead of going to the rest of the body
• Chest X-ray to show whether the heart is enlarged. It can also show whether the lungs have extra blood flow or extra fluid, which can be a sign of heart failure
• Genetic testing to determine if particular gene or genetic conditions are causing the congenital heart defect. Your doctor may refer you or your child to a doctor who specializes in genetic testing
• Cardiac MRI to diagnose a heart defect or follow progress over time
• Pulse oximetry to estimate how much oxygen is in the blood