How is congenital heart disease diagnosed?

A number of different diagnostic tests are done, both before and after birth, to determine what type of congenital heart disease a baby has.

Echocardiograms, which can be done before or after birth, use sounds to create a picture of the heart to visualize any structural abnormalities. Additionally, the doctor may insert a thin tube into your baby's blood vessels in a procedure called cardiac catheterization to further investigate abnormalities found in the echocardiogram. X-rays are another type of medical imaging used to look at the heart to determine if there is any fluid in the heart or if it is enlarged. Arterial blood gases, a pinprick blood test that measures the amount of oxygen in your blood, is also used to help your doctor diagnose congenital heart disease. Electrocardiograms (ECGs or EKGs), tests that measure the electrical activity of the heart, can also be used to detect any irregular heart rhythms.

Your pediatrician will also give your child a physical exam, in which they will listen to the heart and look for the signs and symptoms of congenital heart disease, such as difficulty breathing.

Congenital heart disease is diagnosed in a similar fashion to how adult heart disease is diagnosed. Doctors will examine the patient, listen to their symptoms and complaints. They will then do testing as necessary to look at their blood counts and oxygen levels, and they may use ultrasound procedures, x-ray procedures and catheterization to better understand the congenital heart disease process. Again, this is similar to how adults are diagnosed and are well tolerated. There are special tools that we can use that allow smaller, younger patients to receive the same therapy that adult patients receive.

Congenital heart defects (CHD) are usually diagnosed when symptoms appear. For severe CHD, symptoms usually show up soon after birth. Babies with CHD might have something called cyanosis, where the skin looks blue. Other early symptoms include difficulty breathing, eating and growing. If symptoms are mild, people may not find out they have a heart defect until they’re older. Milder symptoms may include feeling tired or becoming short of breath, especially during physical activities like sports. Not everyone with a heart defect has symptoms.

CHD is diagnosed by pediatricians when a newborn baby is blue within 24 hours of birth or later because of cyanosis. The child may not be feeding well, and may cry all the time. There also may be breathing issues.

Some simpler heart defects can often go undiagnosed until adulthood, where symptoms such as shortness of breath and passing out are experienced, and it is then that the heart defects are found. More complex CHD is diagnosed in early childhood, and that goes for majority of diagnoses.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.