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arrhythmogenic right ventricular dysplasia 1 (ARVC1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arrhythmogenic right ventricular dysplasia 1

MONDO:0007152

Also known as:ARVC1ARVD1TGFB3 arrhythmogenic right ventricular cardiomyopathy

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Overview

Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.

GeneticsAutosomal dominant · TGFB3 (chr 14)

Clinical Trials2 registered · 1 recruiting

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: Right ventricular cardiomyopathy, Ventricular arrhythmia, and Sudden cardiac death.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death

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Genetic Landscape

TGFB3 function has not been fully characterized.

Arrhythmogenic right ventricular dysplasia 1 is associated with mutations in the TGFB3 gene on chromosome 14.

Diagnosis

Genetic testing for TGFB3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 1 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.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

141 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 1. Research spans Epidemiology / Natural History (26%), Diagnostic / Biomarker (20%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	36

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:107970

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for TGFB3, 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 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

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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