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General Medicine · Cardiology: Marfan syndrome
Sample itemA tall 20-year-old man has an arm span exceeding his height, upward lens subluxation and a dilated aortic root. What is the most important cause of death in this condition?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Aortic dissection or rupture
Marfan syndrome is caused by FBN1 mutations affecting fibrillin-1, leading to aortic root dilatation, dissection and aortic regurgitation. Regular echocardiographic surveillance, beta-blockers or losartan, and elective root surgery at a threshold diameter reduce risk. Lens subluxation is typically upward, unlike homocystinuria.
Option by option
A. Ventricular tachycardia from ischaemia
Ischaemic ventricular tachycardia is not the typical mechanism.
B. Pulmonary embolism
Pulmonary embolism is not a characteristic complication.
C. Aortic dissection or rupture (correct)
Correct. Aortic root disease with dissection is the leading cause of death.
D. Mitral stenosis
Mitral stenosis is not a feature; mitral valve prolapse may occur.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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