Marfan syndrome commonly results from mutations in the FBN1 gene. Which tissue abnormality primarily accounts for its characteristic aortic aneurysm risk?
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Correct answer: Defective fibrillin-1 weakening aortic elastic fibers
FBN1 mutations impair production of fibrillin-1, a structural component of elastic fibers; weakened elastic fibers in the aortic wall predispose to aortic aneurysm and dissection in Marfan syndrome.
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