What is the role of Marfan syndrome in the etiology of thoracic aortic aneurysm (TAA)?

Updated: Apr 02, 2021
  • Author: Elaine Tseng, MD; Chief Editor: Mary C Mancini, MD, PhD, MMM  more...
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Answer

Marfan syndrome is a potentially lethal connective-tissue disease characterized by skeletal, heart valve, and ocular abnormalities. Individuals with this disease are at risk for aneurysmal degeneration, especially in the thoracic aorta. Marfan syndrome is an autosomal dominant genetic condition that results in abnormal fibrillin, a structural protein found in the human aorta. Patients with Marfan syndrome may develop annuloaortic ectasia of the sinuses of Valsalva, commonly associated with aortic valvular insufficiency and aneurysmal dilation of the ascending aorta.


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