What is the most common genetic heart defect?

Bicuspid aortic valve is the most common genetic heart defect, occurring in approximately 1-2% of the population. This condition involves an abnormality in the aortic valve, which normally has three cusps but instead has only two. This structural defect can lead to a range of complications, including aortic stenosis, regurgitation, and an increased risk of aortic aneurysm over time.

The prevalence of the bicuspid aortic valve in the general population, along with its potential to cause significant cardiovascular problems, confirms its status as the most common genetic heart defect. Other conditions like Brugada syndrome, familial thoracic aortic aneurysm, and Marfan syndrome are important genetic defects but are less prevalent when compared to the bicuspid aortic valve. The specific pathology and risk factors related to a bicuspid aortic valve provide a clear rationale for its designation as the most common genetic heart defect in clinical practice and genetic counseling contexts.