Case RepositoryUlnar Artery Aneurysm as a Late Sequela of Marfan Syndrome
Section snippets
Case Report
A 49-year-old man with MFS presented complaining of a mass over the hypothenar eminence, 1 month after a fall on his outstretched hand. There had been no immediate sequelae of his trauma and the mass had developed slowly. He had a history of multiple thoracoabdominal aortic aneurysm repairs and mechanical aortic valve replacement, for which he was taking therapeutic anticoagulation with warfarin. He had a prior history of smoking marijuana but had never used tobacco products. He worked as a
Discussion
Marfan syndrome is an autosomal dominant disorder caused by mutations of the FBN1 gene, which encodes fibrillin-1, an extracellular glycoprotein common to elastic tissues. The estimated incidence of MFS is 0.5 to 1 per 10,000 live births. Approximately 75% of these mutations are inherited, and the remainder are due to de novo mutations. The final common pathway of these mutations results in dysregulation of TGF-β activity, causing increased hyaluronan deposition and matrix metalloproteinase
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Cited by (0)
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