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

Rare Disease

dilated cardiomyopathy 1DD

MONDO:0013168

Also known as:CMD1DDRBM20 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Dd

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.

GeneticsAutosomal dominant · RBM20 (chr 10)

ResearchLimited published research (1 article)

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 common findings: Enlarged and weakened heart (dilated cardiomyopathy); and sometimes findings: Sudden cardiac death. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Left ventricular systolic dysfunction, Congestive heart failure, Sudden cardiac death

Explore clinical features

Genetic Landscape

RBM20 function has not been fully characterized.

Dilated cardiomyopathy 1DD is associated with mutations in the RBM20 gene on chromosome 10.

Diagnosis

Genetic testing for RBM20 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

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 1DD.

1 publication has been identified in PubMed for dilated cardiomyopathy 1DD. Research spans Basic Science / Preclinical (100%).

Recent Publications

Carigi S (2025). [PMID: 39855353](https://pubmed.ncbi.nlm.nih.gov/39855353/). *Int J Cardiol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613172

GARD

Genetic and Rare Diseases Info Center

GARD:15627

Questions for Your Care Team

→Should I pursue genetic testing for RBM20, 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 1DD

Overview

Clinical Presentation

Explore clinical features

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