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congenital mitral valve agenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital mitral valve agenesis

MONDO:0020403

Overview

Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.

Diagnosis

Biomarker and diagnostic research for congenital mitral valve agenesis 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 congenital mitral valve agenesis.

94 publications have been identified in PubMed for congenital mitral valve agenesis. Research spans Case Report / Case Series (65%), Review / Meta-Analysis (17%), and Clinical Trial Publication (7%).

Research Type	Count	% of Total
Patient case studies	61	65%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99062

GARD

Genetic and Rare Diseases Info Center

GARD:19629

Questions for Your Care Team

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congenital mitral valve agenesis

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications