A 19-year-old man comes to the office due to difficulty seeing and blurred vision, which have worsened slowly over the past year. He is a second-year college student pursuing a degree in biochemistry. His grades are excellent, but he is concerned about the effect his poor vision has had on his classes this semester. The patient is also an avid swimmer. He weighs 71 kg (156.5 lb) and is 195 cm (6 ft 5 in) tall. Physical examination shows the findings seen in the exhibits.

This patient is most likely to die from which of the following conditions?

Question

A 19-year-old man comes to the office due to difficulty seeing and blurred vision, which have worsened slowly over the past year. He is a second-year college student pursuing a degree in biochemistry. His grades are excellent, but he is concerned about the effect his poor vision has had on his classes this semester. The patient is also an avid swimmer. He weighs 71 kg (156.5 lb) and is 195 cm (6 ft 5 in) tall. Physical examination shows the findings seen in the exhibits.

This patient is most likely to die from which of the following conditions?

Quizplus · Accepted Answer

11ec160b_3a90_0159_9249_07a4c79f245c_MD0001_00 Marfan syndrome (MFS) is one of the most common inherited connective tissue disorders. This condition is caused by a genetic defect in the glycoprotein fibrillin-1 and results in abnormalities in the skeleton (eg, long extremities, scoliosis, pectus excavatum), eyes (eg, ectopia lentis), and cardiovascular system (eg, aortic root disease). The 2 most common cardiac abnormalities seen in MFS patients are mitral valve prolapse and cystic medial degeneration of the aorta. In more than 75% of MFS patients, cystic medial degeneration of the aorta results in aneurysmal dilation. If untreated, this can cause aortic dissection, the most common cause of death in MFS patients. The second most common cause of death is cardiac failure secondary to mitral valve prolapse and/or aortic regurgitation. For these reasons, MFS patients should be followed regularly by a cardiologist. (Choices B, D, and E) With careful cardiovascular management, patients with MFS can have a normal life expectancy. MFS patients are not at increased risk for any of these other conditions. (Choice C) Although homocystinuria is also associated with a marfanoid body habitus, distinguishing features of homocystinuria include intellectual disability and increased risk of thrombotic events (eg, myocardial infarction, stroke). However, this patient has no intellectual dysfunction. Educational objective: Cardiovascular lesions are the most life-threatening complications associated with Marfan syndrome. Early-onset cystic medial degeneration of the aorta predisposes to aortic dissection, the most common cause of death in these patients.

A 19-Year-Old Man Comes to the Office Due to Difficulty