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arrhythmogenic right ventricular dysplasia 5 (ARVC5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arrhythmogenic right ventricular dysplasia 5

MONDO:0011459

Also known as:ARVC5ARVD5TMEM43 arrhythmogenic right ventricular cardiomyopathy

Overview

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.

GeneticsAutosomal dominant · TMEM43 (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: Premature ventricular contraction, Congestive heart failure, Chest pain, and Right ventricular cardiomyopathy and 6 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Premature ventricular contraction, Congestive heart failure, Chest pain

Genetic Landscape

TMEM43 function has not been fully characterized.

Arrhythmogenic right ventricular dysplasia 5 is caused by mutations in the TMEM43 gene on chromosome 3.

Diagnosis

Genetic testing for TMEM43 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 5 has been reported in the published literature.

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 arrhythmogenic right ventricular dysplasia 5.

14 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 5. Research spans Basic Science / Preclinical (57%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	8	57%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604400

Questions for Your Care Team

→Should I pursue genetic testing for TMEM43, 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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arrhythmogenic right ventricular dysplasia 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

arrhythmogenic right ventricular dysplasia 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications