Which genetic connective tissue disorder predisposes to aortic root dilation and potential aortic regurgitation?

Which genetic connective tissue disorder predisposes to aortic root dilation and potential aortic regurgitation?

• A. Ehlers-Danlos syndrome
• B. Marfan syndrome
• C. Turner syndrome
• D. Down syndrome

Answer: (B)

This question centers on how genetic connective tissue disorders affect the aorta. Marfan syndrome is caused by a defect in fibrillin-1, which weakens elastic fibers in the aortic media. This weakens the aortic wall and promotes cystic medial degeneration, leading to dilation of the aortic root. As the root enlarges, the aortic valve annulus and sinuses stretch, making it harder for the leaflets to coapt, which can result in aortic regurgitation. While other conditions like some forms of Ehlers-Danlos can involve vascular fragility, the classic association with aortic root dilation and potential regurgitation is Marfan syndrome. Turner and Down syndromes have their own cardiovascular associations, but they are not the prototypical connective tissue disorder linked to this aortic finding.

This question centers on how genetic connective tissue disorders affect the aorta. Marfan syndrome is caused by a defect in fibrillin-1, which weakens elastic fibers in the aortic media. This weakens the aortic wall and promotes cystic medial degeneration, leading to dilation of the aortic root. As the root enlarges, the aortic valve annulus and sinuses stretch, making it harder for the leaflets to coapt, which can result in aortic regurgitation. While other conditions like some forms of Ehlers-Danlos can involve vascular fragility, the classic association with aortic root dilation and potential regurgitation is Marfan syndrome. Turner and Down syndromes have their own cardiovascular associations, but they are not the prototypical connective tissue disorder linked to this aortic finding.