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familial isolated arrhythmogenic right ventricular dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial isolated arrhythmogenic right ventricular dysplasia

MONDO:0016342

Also known as:familial isolated ARVCfamilial isolated ARVDfamilial isolated arrhythmogenic right ventricular cardiomyopathy

Overview

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.

OnsetLATE

ResearchLimited published research (9 articles)

Diagnosis

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

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 familial isolated arrhythmogenic right ventricular dysplasia.

9 publications have been identified in PubMed for familial isolated arrhythmogenic right ventricular dysplasia. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (22%), and Diagnostic / Biomarker (11%).

Recent Publications

Al Mubaid A (2026). [PMID: 41709806](https://pubmed.ncbi.nlm.nih.gov/41709806/). *JACC. Case reports*. [Case Report / Case Series]
Zorzi A (2026). [PMID: 41537720](https://pubmed.ncbi.nlm.nih.gov/41537720/). *JACC. Clinical electrophysiology*. [Clinical Trial Publication]
Holtzhausen C (2025). [PMID: 39895064](https://pubmed.ncbi.nlm.nih.gov/39895064/). *Human molecular genetics*. [Case Report / Case Series]
Janssen WMT (2025). [PMID: 40287158](https://pubmed.ncbi.nlm.nih.gov/40287158/). *BMJ case reports*. [Case Report / Case Series]
Marchionni E (2025). [PMID: 40282378](https://pubmed.ncbi.nlm.nih.gov/40282378/). *Genes*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:217656

GARD

Genetic and Rare Diseases Info Center

GARD:17129

Questions for Your Care Team

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familial isolated arrhythmogenic right ventricular dysplasia

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team