Article
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.
BMC medical genetics - 24 Feb 2014
Pepe Guglielmina, Nistri Stefano, Giusti Betti, Sticchi Elena, Attanasio Monica, Porciani Cristina, Abbate Rosanna, Bonow Robert O, Yacoub Magdi, Gensini Gian Franco
Abstract excerpt
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 gene encoding fibrillin-1, the genetic background of isolated BAV is poorly defined. METHODS: Ten consecutive BAV...
Topics
- Adult
- Aortic Dissection
- Aorta
- Aortic Aneurysm
- Aortic Valve
- Base Sequence
- Bicuspid Aortic Valve Disease
- Case-Control Studies
- DNA Mutational Analysis
- Dilatation, Pathologic
- Female
- Fibrillin-1
- Fibrillins