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Can J Cardiol. 2021 Nov;37(11):1870-1872. doi: 10.1016/j.cjca.2021.07.231. Epub 2021 Aug 13.

A Giant Abdominal Aortic Aneurysm Revealing a Marfan Syndrome With a New FBN1 Mutation.

The Canadian journal of cardiology

Laura Filippetti, Virginie Dufrost, Hélène Busby-Venner, Nadine Hanna, Pauline Arnaud, Nicla Settembre, Damien Mandry, Sergueï Malikov, Denis Wahl, Stéphane Zuily

Affiliations

  1. Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
  2. Department of Pathology, CHRU-Nancy, Nancy, France.
  3. Department of Genetics and Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat and Université de Paris, Paris, France.
  4. Vascular Surgery Division, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
  5. Department of Radiology, Université de Lorraine, INSERM, IADI, and CHRU-Nancy, Nancy, France.
  6. Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France. Electronic address: [email protected].

PMID: 34400271 DOI: 10.1016/j.cjca.2021.07.231

Abstract

Marfan syndrome is a connective tissue disease that rarely presents first with peripheral aortic aneurysms. We highlight the case of a young man with Marfan syndrome presenting with an abdominal aortic aneurysm due to a heterozygous fibrillin-1 gene mutation.

Copyright © 2021 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

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