A 25-year-old man is brought to the emergency department receiving cardiopulmonary resuscitation in the ambulance after being found unconscious. Initial physical examination reveals a pulse of 150/min, respiratory rate of 10/min, and blood pressure of 60/40 mm Hg. His skin is thin and transparent, and numerous varicose veins are present on his chest and abdomen. The patient cannot be resuscitated and is pronounced dead. Autopsy reveals a ruptured aortic aneurysm. Which of the following structural proteins is most likely defective in this patient? • A. Elastin • B. Fibrillin-1 • C. Type I collagen • D. Type Ill collagen • E. Type IV collagen
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The most likely diagnosis in this case is Marfan syndrome, which is caused by a defect in the fibrillin-1 protein. Fibrillin-1 is a glycoprotein that is essential for the formation of elastic fibers found in connective tissue. Defects in fibrillin-1 lead to the Show more…
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