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Updated: May 25, 2026

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
Published on: February 14, 2017
[Bicuspid aortic valve]
Stefano Nistri1, Cristina Basso, Gaetano Thiene
1Servizio di Cardiologia, CMSR Veneto Medica, Altavilla Vicentina (VI). snistr@tin.it
Abstract:
Bicuspid aortic valve (BAV) is the most common congenital heart disease, whose natural history is characterized by the incidence of clinically relevant valvular (stenosis, regurgitation, endocarditis) and/or vascular complications regarding the thoracic aorta (dilation, aneurysm, dissection) and, rarely, intracranial and epiaortic arteries. BAV may be heritable, with an autosomal dominant pattern of inheritance with reduced penetrance; moreover, some data suggest that BAV and thoracic aorta aneurysm are independent manifestations of a single gene defect. The prevalence of BAV and its susceptibility to valvular and aortic complications during the whole life result into the need of strict clinical follow-up and appropriate therapies (medical as well as surgical) to be addressed according to guidelines specifically designed for these patients.
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