Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

BACKGROUND: Bicuspid aortic valve (BAV) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome (MFS) share some clinical features, and some MFS patients with BAV display mutations in FBN1, the g...

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Bibliografiske detaljer
Main Authors: Pepe, Guglielmina, Nistri, Stefano, Giusti, Betti, Sticchi, Elena, Attanasio, Monica, Porciani, Cristina, Abbate, Rosanna, Bonow, Robert O, Yacoub, Magdi, Gensini, Gian Franco
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3937520/
https://ncbi.nlm.nih.gov/pubmed/24564502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-23
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