Congenital Heart Defects - Diagnosis - Diagnosis

During a physical exam, your doctor will do the following:

• Listen to your or your child’s heart and lungs with a stethoscope.
• Look at your baby’s general appearance. Some children with certain heart defects also have genetic syndromes that make them look a certain way.
• Look for signs of a heart defect, such as shortness of breath, rapid breathing, delayed growth, signs of heart failure, or cyanosis.

To diagnose a congenital heart defect, your doctor may have you or your baby undergo some of the following tests and procedures:

• Echocardiography to diagnose a heart defect or follow your or your child’s progress over time. Fetal echocardiography can sometimes diagnose 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, a sign of heart failure.
• Genetic testing to determine if particular genes or genetic syndromes such as Down syndrome are causing the congenital heart defect. Your doctor may refer you or your child to a specialist in genetic testing.
• Cardiac MRI to diagnose a heart defect or follow your or your child’s progress over time.
• Pulse oximetry to estimate how much oxygen is in the blood. A small sensor is attached to an infant’s hand or foot or an older person’s finger or toe.

• Return to Risk Factors to review family history, smoking, and medicines that increase your risk of having a baby with a congenital heart defect.
• Return to Signs, Symptoms, and Complications to review common signs and symptoms of congenital heart defects.
• Return to Screening and Prevention to review how to screen for congenital heart defects.