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congenital hypoplasia of the mitral valve annulus - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital hypoplasia of the mitral valve annulus

MONDO:0020399

Overview

Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.

ResearchLimited published research (7 articles)

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 hypoplasia of the mitral valve annulus.

7 publications have been identified in PubMed for congenital hypoplasia of the mitral valve annulus. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (14%), and Epidemiology / Natural History (14%).

Recent Publications

Wang E (2026). [PMID: 41717582](https://pubmed.ncbi.nlm.nih.gov/41717582/). *Frontiers in cardiovascular medicine*. [Review / Meta-Analysis]
Stasek S (2025). [PMID: 40992507](https://pubmed.ncbi.nlm.nih.gov/40992507/). *International journal of cardiology*. [Epidemiology / Natural History]
Naito S (2025). [PMID: 40197637](https://pubmed.ncbi.nlm.nih.gov/40197637/). *General thoracic and cardiovascular surgery cases*. [Case Report / Case Series]
Ku L (2025). [PMID: 40965866](https://pubmed.ncbi.nlm.nih.gov/40965866/). *Echocardiography (Mount Kisco, N.Y.)*. [Case Report / Case Series]
Kameda T (2025). [PMID: 40044161](https://pubmed.ncbi.nlm.nih.gov/40044161/). *Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99058

GARD

Genetic and Rare Diseases Info Center

GARD:19625

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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congenital hypoplasia of the mitral valve annulus

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team