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congenital mitral stenosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital mitral stenosis

MONDO:0020398

Also known as:congenital mitral stenosis (disease)congenital mitral valve stenosishereditary mitral valve stenosis

Overview

Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure.

Diagnosis

Biomarker and diagnostic research for congenital mitral stenosis 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 stenosis.

90 publications have been identified in PubMed for congenital mitral stenosis. Research spans Case Report / Case Series (52%), Clinical Trial Publication (19%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	47	52%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99057

GARD

Genetic and Rare Diseases Info Center

GARD:1496

Questions for Your Care Team

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congenital mitral stenosis

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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