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?
- A)Ehlers-Danlos syndrome type IV (vascular type)
- B)Bicuspid aortic valve with familial aortic aneurysm
- C)Marfan syndromeGABARITO
- D)Turner syndrome
- E)Williams syndrome
Explicação
Marfan syndrome is an autosomal dominant fibrillinopathy caused by mutations in FBN1 gene. The classic constellation of features—tall stature, arachnodactyly, lens dislocation (ectopia lentis), myopia, and progressive aortic root dilatation with aortic regurgi... Ver explicação completa e trilha adaptativa →