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dilated cardiomyopathy 1D (CMD1D) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1D

MONDO:0011095

Also known as:CMD1DTNNT2 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1D

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.

GeneticsAutosomal dominant · TNNT2 (chr 1)

ResearchLimited published research (3 articles)

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: Left ventricular noncompaction, Increased circulating brain natriuretic peptide concentration, and Increased left ventricular end-diastolic volume; and very common findings: Enlarged and weakened heart (dilated cardiomyopathy). 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	10	Atrial fibrillation, Left ventricular noncompaction, Incomplete right bundle branch block

Genetic Landscape

TNNT2 function has not been fully characterized.

Dilated cardiomyopathy 1D is caused by 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 dilated cardiomyopathy 1D has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 3 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 dilated cardiomyopathy 1D.

3 publications have been identified in PubMed for dilated cardiomyopathy 1D. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Nakayama R (2025). [PMID: 39916360](https://pubmed.ncbi.nlm.nih.gov/39916360/). *ESC heart failure*. [Case Report / Case Series]
Daphin Lilda S (2025). [PMID: 39864336](https://pubmed.ncbi.nlm.nih.gov/39864336/). *Computers in biology and medicine*. [Diagnostic / Biomarker]
Mikšiūnas R (2024). [PMID: 38928463](https://pubmed.ncbi.nlm.nih.gov/38928463/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601494

GARD

Genetic and Rare Diseases Info Center

GARD:15332

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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dilated cardiomyopathy 1D

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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