巨大腹主动脉瘤揭示马凡综合征伴新 FBN1 突变。
A Giant Abdominal Aortic Aneurysm Revealing a Marfan Syndrome With a New FBN1 Mutation.
机构信息
Vascular Medicine Division and Regional Competence Center For Marfan Syndrome, Université de Lorraine, INSERM, DCAC, and CHRU-Nancy, Nancy, France.
Department of Pathology, CHRU-Nancy, Nancy, France.
出版信息
Can J Cardiol. 2021 Nov;37(11):1870-1872. doi: 10.1016/j.cjca.2021.07.231. Epub 2021 Aug 13.
PMID:34400271
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.
摘要
马凡综合征是一种结缔组织疾病，很少首先表现为外周主动脉瘤。我们重点介绍了一名患有马凡综合征的年轻男性，由于纤维蛋白 1 基因突变，导致腹主动脉瘤。
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