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hypertrophic cardiomyopathy 6 (CMH6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 6

MONDO:0010946

Also known as:CMH6PRKAG2 hypertrophic cardiomyopathycardiomyopathy, familial hypertrophic 6

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.

GeneticsAutosomal dominant · PRKAG2 (chr 7)

Newborn Screening50 states (3-Methylcrotonyl-CoA Carboxylase Deficiency)

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: Shortened PR interval; and very common findings: Prolonged QRS complex. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	9	Aborted sudden cardiac death, Atrial fibrillation, Left bundle branch block

Genetic Landscape

PRKAG2 function has not been fully characterized.

Hypertrophic cardiomyopathy 6 is associated with mutations in the PRKAG2 gene on chromosome 7.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Hypertrophic cardiomyopathy 6 is included in newborn screening programs (3-Methylcrotonyl-CoA Carboxylase Deficiency) in 50 states.

Genetic testing for PRKAG2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common 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 6.

242 publications have been identified in PubMed for hypertrophic cardiomyopathy 6. Research spans Clinical Trial Publication (27%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Clinical study results	53	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600858

Questions for Your Care Team

→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Should I pursue genetic testing for PRKAG2, 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 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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hypertrophic cardiomyopathy 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications