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Pathology Single Gene Disorders 7e25b17f

A patient has been diagnosed with Marfan syndrome. Which of the following is the most common cause of death in these patients?

A
Liver disease
B
Myocardial infarction
C
Recurrent infection
D
Aoic disease
High-Yield Explanation
Marfan syndrome Autosomal dominant Defect in an extracellular glycoprotein called fibrillin-1. Loss of fibrillin- Clinical manifestations of Marfan syndrome. Loss of structural suppo in microfibril rich connective tissue and excessive activation of TGF-b signaling. Skeletal abnormalities Unusually tall Exceptionally long extremities and long, Tapering fingers and toes. Cardiovascular lesions Mitral valve prolapse Aoic Dissection.

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