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familial isolated dilated cardiomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial isolated dilated cardiomyopathy

MONDO:0700335

Also known as:familial or idiopathic dilated cardiomyopathy

Overview

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.

OnsetADULT, INFANTILE, CONGENITAL

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 very common findings: Enlarged and weakened heart (dilated cardiomyopathy) and Left ventricular systolic dysfunction; and common findings: Edema, Congestive heart failure, Exertional dyspnea, and Arrhythmia and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Enlarged and weakened heart (dilated cardiomyopathy), Left ventricular systolic dysfunction, Congestive heart failure

Diagnosis

Biomarker and diagnostic research for familial isolated dilated cardiomyopathy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 6 common features.

Estimated prevalence: 1-5 in 10,000 (Uncommon).

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 familial isolated dilated cardiomyopathy.

189 publications have been identified in PubMed for familial isolated dilated cardiomyopathy. Research spans Basic Science / Preclinical (34%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	64	34%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:154

Questions for Your Care Team

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Kisho

familial isolated dilated cardiomyopathy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial isolated dilated cardiomyopathy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications