Cardiovascular manifestations in men and women carrying a FBN1 mutation.

doi:10.1093/eurheartj/ehq258

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Article

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

European heart journal - 1 Sept 2010

Détaint Delphine, Faivre Laurence, Collod-Beroud Gwenaelle, Child Anne H, Loeys Bart L, Binquet Christine, Gautier Elodie, Arbustini Eloisa, Mayer Karin, Arslan-Kirchner Mine, Stheneur Chantal, Halliday Dorothy, Beroud Christophe, Bonithon-Kopp Claire, Claustres Mireille, Plauchu Henri, Robinson Peter N, Kiotsekoglou Anatoli, De Backer Julie, Adès Lesley, Francke Uta, De Paepe Anne, Boileau Catherine, Jondeau Guillaume

Abstract excerpt

AIMS: In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation. METHODS AND RESULTS: A total of 1,013 probands with pathogenic FBN1 mutations were included,...

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Identifiers

PMID: 20709720
DOI: 10.1093/eurheartj/ehq258

Genes

FBN1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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