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cardiomyopathy, dilated, 2G (CMD2G) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, dilated, 2G

MONDO:0030887

Also known as:CMD2G

Overview

A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.

GeneticsAutosomal recessive · LMOD2 (chr 7)

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: Cerebral hemorrhage, Myofiber disarray, Paroxysmal ventricular tachycardia, and Complete right bundle branch block and others; and common findings: Cardiogenic shock, Multifocal atrial tachycardia, Myocardial sarcomeric disarray, and Increased Z-disc width and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	11	Paroxysmal ventricular tachycardia, Complete right bundle branch block, Multifocal atrial tachycardia

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.

LMOD2 encodes leiomodin 2 (547 aa). Mediates nucleation of actin filaments and thereby promotes actin polymerization. Plays a role in the regulation of actin filament length. Highest expression in Muscle Skeletal (396.6 TPM) and Heart Left Ventricle (224.0 TPM).

Cardiomyopathy, dilated, 2G is caused by mutations in the LMOD2 gene on chromosome 7.

LMOD2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LMOD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 5 common features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619897

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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cardiomyopathy, dilated, 2G

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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