" /> Aortic valve disease 1 - CISMeF





Preferred Label : Aortic valve disease 1;

Symbol : AOVD1;

CISMeF acronym : AOVD1; BAV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aortic stenosis, calcific; Bicuspid aortic valve; Aortic valve, calcification of; Aortic valve, bicuspid; Aortic valve disease; BAV; AOVD;

Description : Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. - Genetic Heterogeneity of Aortic Valve Disease Aortic valve disease-2 (AOVD2; 614823) is caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the notch receptor 1 gene (NOTCH1, 190198.0001);

Prefixed ID : #109730;

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27/07/2025


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