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congenital supravalvular mitral ring - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital supravalvular mitral ring

MONDO:0020400

Overview

Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.

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 supravalvular mitral ring.

7 publications have been identified in PubMed for congenital supravalvular mitral ring. Research spans Case Report / Case Series (71%) and Epidemiology / Natural History (29%).

Recent Publications

Mahrouqi R (2026). [PMID: 41988511](https://pubmed.ncbi.nlm.nih.gov/41988511/). *J Saudi Heart Assoc*. [Case Report / Case Series]
Labrada L (2025). [PMID: 40778907](https://pubmed.ncbi.nlm.nih.gov/40778907/). *JACC. Case reports*. [Case Report / Case Series]
Aironi B (2025). [PMID: 40642707](https://pubmed.ncbi.nlm.nih.gov/40642707/). *Cureus*. [Epidemiology / Natural History]
Qatza A (2025). [PMID: 39700577](https://pubmed.ncbi.nlm.nih.gov/39700577/). *International journal of surgery case reports*. [Case Report / Case Series]
Campbell C (2025). [PMID: 39753285](https://pubmed.ncbi.nlm.nih.gov/39753285/). *BMJ case reports*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 8:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99059

GARD

Genetic and Rare Diseases Info Center

GARD:19626

Questions for Your Care Team

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congenital supravalvular mitral ring

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team