Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome

Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome

BackgroundMarfan syndrome (MFS) is an autosomal dominant connective tissue disorder primarily affecting the cardiovascular, ocular, and skeletal systems. Cardiovascular complications are the leading cause of mortality in MFS. Mutations in the FBN1 gene, which encodes fibrillin-1, a critical extracel...

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Bibliographic Details
Main Authors: Chao Su, Linjun Zeng, Haocheng Lu, Zanxin Wang, Minxin Wei
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Marfan syndrome
fibrillin-1
mutation
aortic dissection
connective tissue disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1533138/full
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