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hypertrophic cardiomyopathy 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 8

MONDO:0012111

Also known as:MYL3 hypertrophic cardiomyopathycardiomyopathy hypertrophic mid-left ventricular chamber type 1cardiomyopathy, familial hypertrophic, 8

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.

GeneticsAutosomal recessive, Autosomal dominant · MYL3 (chr 3)

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: T-wave inversion, Thickened heart muscle (hypertrophic cardiomyopathy), and Thickened left heart wall (left ventricular hypertrophy); and common findings: Left atrial enlargement. 13 total HPO annotations.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608751

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?

← Back to All Diseases

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 8.

231 publications have been identified in PubMed for hypertrophic cardiomyopathy 8. Research spans Epidemiology / Natural History (26%), Clinical Trial Publication (22%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	59	26%
Clinical study results	51	22%
Research summaries	33	14%
Laboratory research	32	14%
Testing and diagnosis research	29	13%
Other research	13	6%
New treatment approaches	8	3%
Patient case studies	6	3%

Recent Publications

Fahim M (2026). [PMID: 41672217](https://pubmed.ncbi.nlm.nih.gov/41672217/). *Am J Cardiol*. [Review / Meta-Analysis]
Fell J (2026). [PMID: 41988707](https://pubmed.ncbi.nlm.nih.gov/41988707/). *Circulation*. [Gene Therapy / Novel Therapeutics]
Minette F (2026). [PMID: 41081838](https://pubmed.ncbi.nlm.nih.gov/41081838/). *Clin Res Cardiol*. [Epidemiology / Natural History]
Vissing CR (2026). [PMID: 41800474](https://pubmed.ncbi.nlm.nih.gov/41800474/). *Circulation*. [Epidemiology / Natural History]
Heeringa TJP (2026). [PMID: 40878834](https://pubmed.ncbi.nlm.nih.gov/40878834/). *Eur Heart J*. [Clinical Trial Publication]
Dababneh SF (2026). [PMID: 41893039](https://pubmed.ncbi.nlm.nih.gov/41893039/). *J Pers Med*. [Basic Science / Preclinical]
Saberi S (2026). [PMID: 41498737](https://pubmed.ncbi.nlm.nih.gov/41498737/). *J Am Coll Cardiol*. [Other]
Suwa K (2026). [PMID: 41129543](https://pubmed.ncbi.nlm.nih.gov/41129543/). *J Magn Reson Imaging*. [Clinical Trial Publication]
Patel N (2026). [PMID: 40704931](https://pubmed.ncbi.nlm.nih.gov/40704931/). *Mayo Clin Proc*. [Clinical Trial Publication]
Obayashi Y (2026). [PMID: 41636023](https://pubmed.ncbi.nlm.nih.gov/41636023/). *Circ Heart Fail*. [Diagnostic / Biomarker]

Organ System	Phenotype Count	Example Features
Heart and blood vessels	10	Ventricular fibrillation, Cardiac arrest, Reduced left ventricular ejection fraction
Lungs and breathing	1	Exertional dyspnea

Kisho

hypertrophic cardiomyopathy 8

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

hypertrophic cardiomyopathy 8

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications