Valvular Heart Disease USMLE Step 1 Practice Question
A 64-year-old man with a history of myopia and lens dislocation presents to the clinic with progressive dyspnea on exertion and fatigue over the past 3 months. He denies chest pain, orthopnea, or paroxysmal nocturnal dyspnea. Vital signs are BP 145/55 mmHg, HR 88 bpm, RR 16, SpO2 98% on room air. Physical examination reveals a tall, thin habitus with arachnodactyly and a high-pitched decrescendo diastolic murmur best heard at the left sternal border. Transthoracic echocardiography shows a dilated ascending aorta (5.3 cm) with severe aortic regurgitation and normal ejection fraction. The patient's father died suddenly at age 56. Which of the following genetic conditions best explains this clinical presentation?
Answer choices
- AEhlers-Danlos syndrome type IV (vascular type)
- BBicuspid aortic valve with familial aortic aneurysm
- CMarfan syndromeCorrect answer
- DTurner syndrome
- EWilliams syndrome
- FLoeys-Dietz syndrome
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