The most likely congenital cause of aortic valve disease in a patient with a positive family history is which?

The most likely congenital cause of aortic valve disease in a patient with a positive family history is which?

• A. Rheumatic heart disease
• B. Calcific degenerative disease of a trileaflet valve
• C. Endocarditis
• D. Bicuspid aortic valve

Answer: (D)

A congenital bicuspid aortic valve is the most likely cause. This structural valve abnormality has a strong familial pattern, so a positive family history points toward it. With a bicuspid valve, two leaflets fuse during development, which predisposes the valve to earlier wear, leading to stenosis or regurgitation sooner than a normal trileaflet valve. It can also be associated with dilation of the aortic root. Rheumatic heart disease is an acquired condition from prior streptococcal infection and typically affects the mitral valve more; calcific degenerative disease of a trileaflet valve usually occurs with aging and is not inherited; endocarditis is an infectious process, not a congenital cause.

A congenital bicuspid aortic valve is the most likely cause. This structural valve abnormality has a strong familial pattern, so a positive family history points toward it. With a bicuspid valve, two leaflets fuse during development, which predisposes the valve to earlier wear, leading to stenosis or regurgitation sooner than a normal trileaflet valve. It can also be associated with dilation of the aortic root.

Rheumatic heart disease is an acquired condition from prior streptococcal infection and typically affects the mitral valve more; calcific degenerative disease of a trileaflet valve usually occurs with aging and is not inherited; endocarditis is an infectious process, not a congenital cause.