Article
Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.
American journal of medical genetics. Part A - 1 Jul 2021
Haan Eric A, Chamalaun Francois H, Chamuleau Steven A J, Arnolda Leonard F, Slavotinek John P, Wise Nadia C, Gunawardane Dimuth N, Schwarze Ulrike, Byers Peter H, Gabb Genevieve M
Abstract excerpt
A 57-year-old man with a family history of aortic aneurysm was found, during assessment of unexplained fever, to have an infrarenal aortic aneurysm requiring immediate repair. Dilatation of popliteal and iliac arteries was also present. Progressive aortic root dilatation with aortic regurgitation was documented from 70 years leading to valve-sparing aortic root replacement at 77 years, at which time genetic...
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