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Review of Clinical Signs Review Questions

Marfan Syndrome

Umamahesh C. Rangasetty, MD, and Bernard M. Karnath, MD

Choose the single best answer for each question.

1. A 30-year-old man who recently moved to the United States from Mexico presents with complains of palpitations and chest pain of 3 months’ duration. Palpitations are present throughout the day and increase at night. Chest pain is retrosternal and related to exertion and relieved by rest. Family history is significant for sudden death of both his father and grandfather in their forties. Physical examination is notable for a blood pressure of 140/30 mm Hg, collapsing pulse, and displaced apical impulse with an early diastolic murmur best heard along the right parasternal border in the third intercostal space. What is the most likely diagnosis?

  1. Bicuspid aortic valve
  2. Marfan syndrome
  3. Rheumatic heart disease
  4. Syphilis
  5. Takayasu’s arteritis
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2. All of the following cause tall stature EXCEPT

  1. Chondrodysplasia
  2. Familial tall stature
  3. Homocystinuria
  4. Marfan syndrome
  5. Multiple endocrine neoplasia type IIB
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3. All of the following are major signs of Marfan syndrome EXCEPT
  1. Aortic root dilatation
  2. Aortic dissection
  3. Pectus excavatum
  4. Dural ectasia
  5. Ectopia lentis
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4. A 26-year-old woman presents to an ophthalmologist with a painful red eye. On examination, she is found to have elevated intraocular pressure with ectopia lentis. The lens is shifted upward and laterally. Which of the following evaluations would be most helpful in establishing a diagnosis of Marfan syndrome?

  1. Abdominal computed axial tomography (CAT) scan
  2. Echocardiography
  3. Serum lysine
  4. Serum methionine
  5. Slit-lamp eye examination
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5. All of the following cause ectopia lentis EXCEPT

  1. Congenital contracture arachnodactyly
  2. Familial ectopia lentis syndrome
  3. Homocystinuria
  4. Marfan syndrome
  5. MASS syndrome
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