AORTIC VALVE DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: AORTIC STENOSIS, CALCIFIC
AORTIC VALVE, BICUSPID
AORTIC VALVE, CALCIFICATION OF
AORTIC VALVE DISEASE
BICUSPID AORTIC VALVE
BAV
AOVD1
Number of Symptoms 3
OrphanetNr:
OMIM Id: 109730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001647) Bicuspid aortic valve 34 / 7739
2
(HPO:0001650) Aortic valve stenosis 49 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Emanuel et al. (1978) investigated the families of 41 patients with surgically proved isolated bicuspid aortic valves. The minimum frequency of familial occurrence was 17.1%, or 34.1% if doubtful cases were included. Roberts (1970) found a frequency of ...
Molecular genetics OMIM Garg et al. (2005) identified heterozygous NOTCH1 mutations in the 2 families described by them with congenital heart disease with bicuspid aortic valve and calcification. One family had a nonsense mutation (R1108X; 190198.0001) and the other family had ...