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hypertrophic cardiomyopathy 2 (CMH2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 2

MONDO:0007266

Also known as:CMH2TNNT2 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 2

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.

GeneticsAutosomal dominant · TNNT2 (chr 1)

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: Thickened heart muscle (hypertrophic cardiomyopathy); and common findings: Angina pectoris and Thickened wall between heart chambers (ventricular septal hypertrophy). 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Thickened heart muscle (hypertrophic cardiomyopathy), Angina pectoris, Thickened wall between heart chambers (ventricular septal hypertrophy)

Genetic Landscape

TNNT2 function has not been fully characterized.

Hypertrophic cardiomyopathy 2 is associated with mutations in the TNNT2 gene on chromosome 1.

Diagnosis

Genetic testing for TNNT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

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 hypertrophic cardiomyopathy 2.

157 publications have been identified in PubMed for hypertrophic cardiomyopathy 2. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (22%), and Diagnostic / Biomarker (19%).

Research Type	Count	% of Total
Laboratory research	43	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115195

Questions for Your Care Team

→Should I pursue genetic testing for TNNT2, and what would the results mean for my family?
→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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hypertrophic cardiomyopathy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypertrophic cardiomyopathy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications