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Items: 4

1.

AORTIC VALVE DISEASE 1

MedGen UID:
854610
Concept ID:
C3887892
Disease or Syndrome
2.

Aortic valve disorder

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 SMAD6 gene (602931) on chromosome 15q22. There is evidence for additional genetic heterogeneity (see MAPPING). [from OMIM]

MedGen UID:
226776
Concept ID:
C1260873
Disease or Syndrome
3.

Aortic valve calcification

Deposition of calcium salts in the aortic valve. [from HPO]

MedGen UID:
140899
Concept ID:
C0428791
Disease or Syndrome; Finding
4.

Bicuspid aortic valve

The presence of an aortic valve with two instead of the normal three cusps (flaps). [from HPO]

MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
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