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dilated cardiomyopathy 1FF - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1FF

MONDO:0013211

Also known as:CMD1FFcardiomyopathy, dilated, type 1Ffdilated cardiomyopathy type 1FF

Overview

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.

GeneticsAutosomal dominant · 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: Congestive heart failure, Increased left ventricular end-diastolic volume, and Enlarged and weakened heart (dilated cardiomyopathy); and very common findings: Severely reduced left ventricular ejection fraction.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Congestive heart failure, Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fraction

Genetic Landscape

TNNI3 function has not been fully characterized.

Dilated cardiomyopathy 1FF 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 very common feature.

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613286

GARD

Genetic and Rare Diseases Info Center

GARD:15643

Questions for Your Care Team

→Should I pursue genetic testing for TNNI3, 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 1FF

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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