Genetic Syndromes Associated with Congenital Heart Disease


Studies show that approximately 30% of congenital heart disease is related to genetic syndromes. awareness of these genetic syndromes can help in the planning of the individual’s care management.

The following are common genetic syndromes associated with congenital heart disease:

Down Syndrome. Studies show that congenital heart disease occurs in 40-50% of individuals with Down syndrome specifically atrioventricular canal defects. It is suggested that echocardiograms should be performed at diagnosis.

Turner Syndrome. Heart issues are common in 24-45% of girls diagnosed with Turner syndrome. The most common abnormalities are bicuspid aortic valve (16%). The researcher suggests that all Turner patients should have a baseline cardiologic exam.

22q11.2 deletion Syndrome.  In most cases, congenital heart defects is the cause of death. It is recommended that both an EKG and and EEG be done at the time of the diagnosis with ongoing follow-up.

Williams Syndrome. Approximately 75-80% of individuals born with Williams syndrome have a cardiac malformation. Hypertension is often developed in about 50% of people with Williams syndrome and continues to increase overtime.


Ko, JM (2015). Genetic Syndromes Associated with Congenital Heart Disease.  The Korean Society of Cardiology. 45 (5) 357-361

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