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

@inproceedings{Pepe2013IdentificationOF,
  title={Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome},
  author={Guglielmina Pepe and Stefano Nistri and Betti Giusti and Elena Sticchi and Monica Attanasio and Cristina M Porciani and Rosanna Abbate and Robert Ogden Bonow and Magdi Habib Yacoub and Gian Franco Gensini},
  booktitle={BMC Medical Genetics},
  year={2013}
}
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. Ten consecutive BAV patients [8 men, age range 24–42 years] without MFS were clinically characterized. BAV phenotype and… CONTINUE READING
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