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cardiomyopathy, familial restrictive, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, familial restrictive, 3

MONDO:0012900

Also known as:TNNT2 familial isolated restrictive cardiomyopathycardiomyopathy, familial restrictive, type 3familial isolated restrictive cardiomyopathy caused by mutation in TNNT2

Overview

Any familial isolated restrictive 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: Right atrial enlargement, Restrictive cardiomyopathy, Myocardial sarcomeric disarray, and Hypotension and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Right atrial enlargement, Restrictive cardiomyopathy, Myocardial sarcomeric disarray

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Genetic Landscape

TNNT2 function has not been fully characterized.

Cardiomyopathy, familial restrictive, 3 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 cardiomyopathy, familial restrictive, 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present 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 cardiomyopathy, familial restrictive, 3.

39 publications have been identified in PubMed for cardiomyopathy, familial restrictive, 3. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (18%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Disease patterns and progression	12	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612422

GARD

Genetic and Rare Diseases Info Center

GARD:18072

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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cardiomyopathy, familial restrictive, 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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