Marfan Syndrome, Carotid Aneurysm, Extracranial Carotid Artery Aneurysm
Medicine and Health Sciences
Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by a mutation in the FBN1 gene that encodes for the extracellular matrix protein fibrillin-1. The clinical manifestations of MFS which lead to morbidity and mortality are primarily those involving aortic disease, such as aneurysmal dilation, aortic regurgitation, and aortic dissection. Despite 60-80% of adults with MFS having some degree of aortic disease, carotid artery aneurysms are rare and usually represent extensions of aortic dissections.1 We report a 70-year-old female with a history of ectopia lentis and family history of MFS who presented to the ED with epistaxis and anemia. An arteriogram revealed an incidental finding of bilateral carotid artery aneurysms a rare phenomenon even in the presence of connective tissue disease. Review of the literature reveals very little data on the clinical presentation, treatment, and outcome of MFS patients with extracranial carotid artery aneurysms (ECAAs). We discuss presentation, etiology, and management options reported for these rare occurrences.
Mendenhall, Lee; Shaver, Karl G.; and Goebel, Lynne J.
"Bilateral Extracranial Carotid Artery Aneurysms: A Rare Complication of Marfan Syndrome,"
Marshall Journal of Medicine:
1, Article 3.
Available at: https://mds.marshall.edu/mjm/vol6/iss1/3