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Marfan Syndrome — RACP Adult Medicine MCQ

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EasyCardiologyMarfan SyndromeRACP Adult Medicine

A 50-year-old man with Marfan syndrome presents to ED with acute tearing chest pain radiating to the back. He has a tall stature with arachnodactyly and a high-arched palate. BP is 180/100 mmHg. CT aortography shows a dissection flap in the ascending aorta extending into the arch. What is the most likely inherited condition?

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Correct answer: D — Marfan syndrome

Tall stature, arachnodactyly, high-arched palate, and ascending aortic dissection in a patient with known Marfan syndrome. Marfan is caused by FBN1 mutations (fibrillin-1). Ascending aortic dissection (Stanford Type A) is the major cause of death. Type A dissection requires emergency surgery. Lifelong beta-blocker therapy and aortic surveillance are essential.

Reference: Ghent Nosology 2010; CSANZ 2024 Aortic Disease Guidelines