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

Rare Disease

dilated cardiomyopathy 1EE

MONDO:0013198

Also known as:CMD1EEMYH6 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Ee

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.

GeneticsAutosomal dominant · MYH6 (chr 14)

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, Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, and Enlarged and weakened heart (dilated cardiomyopathy).

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

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MYH6 encodes myosin heavy chain 6 (1,939 aa). Muscle contraction Highest expression in Heart Atrial Appendage (4,609 TPM) and Heart Left Ventricle (334.6 TPM).

Dilated cardiomyopathy 1EE has limited evidence linking it to mutations in the MYH6 gene on chromosome 14.

MYH6 is classified as a druggable target (Druggable Genome category) with score 2.5.

Diagnosis

Genetic testing for MYH6 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613252

GARD

Genetic and Rare Diseases Info Center

GARD:15639

Questions for Your Care Team

→Should I pursue genetic testing for MYH6, 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 1EE

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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