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dilated cardiomyopathy 2A (CMD2A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 2A

MONDO:0012746

Also known as:CMD2Acardiomyopathy, dilated, type 2Adilated cardiomyopathy type 2A

Overview

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.

GeneticsAutosomal recessive · TNNI3 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Cardiomyocyte hypertrophy, Congestive heart failure, and Enlarged and weakened heart (dilated cardiomyopathy); and common findings: Increased left ventricular end-diastolic volume. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Congestive heart failure, Increased left ventricular end-diastolic volume, Enlarged and weakened heart (dilated cardiomyopathy)

Genetic Landscape

TNNI3 function has not been fully characterized.

Dilated cardiomyopathy 2A is strongly associated with mutations in the TNNI3 gene on chromosome 19.

Diagnosis

Genetic testing for TNNI3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 dilated cardiomyopathy 2A.

57 publications have been identified in PubMed for dilated cardiomyopathy 2A. Research spans Case Report / Case Series (49%), Basic Science / Preclinical (23%), and Gene Therapy / Novel Therapeutics (11%).

Research Type	Count	% of Total
Patient case studies	28	49%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611880

GARD

Genetic and Rare Diseases Info Center

GARD:15532

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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dilated cardiomyopathy 2A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

dilated cardiomyopathy 2A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications