Adult Congenital Heart Disease


Many cases of congenital heart disease (CHD) are diagnosed by a fetal ultrasound during pregnancy or shortly after birth, while others may not be diagnosed until adulthood. In these cases, doctors will perform a physical exam to look for symptoms associated with CHD and order tests to either make or rule out a diagnosis of CHD. These tests include the following:

  • Computerized tomography (CT) scan – This scan uses X-rays to take detailed cross-sectional images of the arteries and heart. Using a contrast dye helps identify problems with the heart or blood vessels.
  • Echocardiogram (echo, doppler, or heart ultrasound) – This noninvasive test uses sound waves to picture your heart muscles, valves, and blood vessels in motion. It is crucial to assess whether all areas of the heart are contracting well.
  • Electrocardiogram (ECG/EKG) – This test records the electrical activity in your heart. It can detect abnormalities in your heart's rhythm and certain patterns that suggest portions of the heart may not get enough blood flow.
  • Genetic testing – If you're an adult born with CHD and are interested in having children, genetic testing can help assess the risk of your child inheriting that condition. It can also indicate the presence of certain genetic syndromes that may have effects beyond your cardiovascular system. Genetic tests are not available for all forms of CHD.
  • Magnetic resonance angiogram (MRA) – An MRA is a type of MRI imaging that creates 2D or 3D images of the blood vessels. These images provide a more precise assessment of the severity and location of any blockages in the arteries.
  • Pulse oximeter – A pulse oximetry screen is a noninvasive (and painless) test to determine the oxygen level in your blood.