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familial bicuspid aortic valve - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial bicuspid aortic valve

MONDO:0007194

Also known as:familial BAVAOVD1aortic valve disease 1

Overview

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).

OnsetCONGENITAL

Diagnosis

Biomarker and diagnostic research for familial bicuspid aortic valve has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial bicuspid aortic valve.

169 publications have been identified in PubMed for familial bicuspid aortic valve. Research spans Clinical Trial Publication (41%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Clinical study results	70	41%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:402075

GARD

Genetic and Rare Diseases Info Center

GARD:17670

Questions for Your Care Team

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Kisho

familial bicuspid aortic valve

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.

familial bicuspid aortic valve

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.