familial bicuspid aortic valve
Findings
No curated finding names familial bicuspid aortic valve yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
Definition from the Mondo Disease Ontology (MONDO:0007194), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bicuspid aortic valveHPOHP:0001647
- Obligate (100% of cases)
- Aortic regurgitationHPOHP:0001659
- Very frequent (80% to 99% of cases)
- Aortic valve calcificationHPOHP:0004380
- Very frequent (80% to 99% of cases)
- Aortic valve stenosisHPOHP:0001650
- Very frequent (80% to 99% of cases)
- Coarctation of aortaHPOHP:0001680
- Very frequent (80% to 99% of cases)
- Heart murmurHPOHP:0030148
- Very frequent (80% to 99% of cases)
- Thoracic aorta calcification
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (3)
Other names
1 name
Resolves to: familial bicuspid aortic valve
- Also called
- familial BAV