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hypertrophic cardiomyopathy 18 (CMH18) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 18

MONDO:0013475

Also known as:CMH18PLN hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 18

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.

GeneticsAutosomal dominant · PLN (chr 6)

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: Thickened heart muscle (hypertrophic cardiomyopathy), Thickened left heart wall (left ventricular hypertrophy), and Paroxysmal atrial fibrillation. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Thickened heart muscle (hypertrophic cardiomyopathy), Atrial fibrillation, Thickened left heart wall (left ventricular hypertrophy)

Genetic Landscape

PLN function has not been fully characterized.

Hypertrophic cardiomyopathy 18 is associated with mutations in the PLN gene on chromosome 6.

Diagnosis

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

Biomarker and diagnostic research for hypertrophic cardiomyopathy 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

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 hypertrophic cardiomyopathy 18.

246 publications have been identified in PubMed for hypertrophic cardiomyopathy 18. Kisho has analyzed 113 by research type. Research spans Epidemiology / Natural History (27%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	30	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613874

Questions for Your Care Team

→Should I pursue genetic testing for PLN, 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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hypertrophic cardiomyopathy 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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hypertrophic cardiomyopathy 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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