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Familial congenital bicuspid aortic valve: A disorder of uncertain inheritance

✍ Scribed by Clementi, Maurizio; Notari, Luisa; Borghi, Adele; Tenconi, Romano

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 20 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960424)62:4<336::aid-ajmg2>3.0.co;2-p

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✦ Synopsis

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Congenital bicuspid aortic valve (BAV) is one of the most frequent heart defects detected by echocardiographic investigation and necropsy (0.!3-1% of the general population), but only 16 families with familial congenital BAV have been described up to now. We report on a family in which 4 members of two generations (2 brothers, 1 sister, and her son) are affected with BAV. The BAV mode of inheritance is discussed.

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Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

✍ Melissa L. Loscalzo; Denise LM Goh; Bart Loeys; Kathleen C. Kent; Philip J. Spev 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

## Abstract The autosomal dominant inheritance of bicommissural aortic valve (BAV) (Online Mendelian Inheritance in Man #109730) in some families is well‐documented; however, the inheritance of BAV with thoracic aortic aneurysm (TAA) is less clear. Whether the aneurysm is secondary to hemodynamic p