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Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.
Features include common findings: Right ventricular dilatation, Left bundle branch block, and Ventricular tachycardia; and sometimes findings: First degree atrioventricular block.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 4 | First degree atrioventricular block, Right ventricular dilatation, Left bundle branch block |
CTNNA3 encodes catenin alpha 3 (895 aa). May be involved in formation of stretch-resistant cell-cell adhesion complexes Highest expression in Brain Spinal cord cervical c-1 (29.2 TPM) and Brain Substantia nigra (10.1 TPM).
Arrhythmogenic right ventricular dysplasia 13 is associated with mutations in the CTNNA3 gene on chromosome 10.
CTNNA3 is classified as a druggable target with score 2.0.
Genetic testing for CTNNA3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 13 has been reported in the published literature.
Phenotype severity distribution: 3 common features.
No clinical trials have been registered for arrhythmogenic right ventricular dysplasia 13.
59 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 13. Research spans Epidemiology / Natural History (32%), Diagnostic / Biomarker (25%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 19 | 32% |
Testing and diagnosis research | 15 | 25% |
Patient case studies | 8 | 14% |
Research summaries | 6 | 10% |
Clinical study results | 6 | 10% |
Laboratory research | 5 | 8% |
Aytekin Güvenir F (2026). [PMID: 42194195](https://pubmed.ncbi.nlm.nih.gov/42194195/). *Children (Basel)*. [Epidemiology / Natural History]
Park BE (2026). [PMID: 41918562](https://pubmed.ncbi.nlm.nih.gov/41918562/). *Front Cardiovasc Med*. [Case Report / Case Series]
Liu W (2026). [PMID: 41972041](https://pubmed.ncbi.nlm.nih.gov/41972041/). *Quant Imaging Med Surg*. [Basic Science / Preclinical]
Martignani C (2026). [PMID: 41745307](https://pubmed.ncbi.nlm.nih.gov/41745307/). *J Cardiovasc Dev Dis*. [Review / Meta-Analysis]
Kerkouri F (2026). [PMID: 41416696](https://pubmed.ncbi.nlm.nih.gov/41416696/). *Eur Heart J*. [Epidemiology / Natural History]
Lin X (2026). [PMID: 42238264](https://pubmed.ncbi.nlm.nih.gov/42238264/). *Front Cardiovasc Med*. [Case Report / Case Series]
Schätti NA (2026). [PMID: 41916669](https://pubmed.ncbi.nlm.nih.gov/41916669/). *Open Heart*. [Epidemiology / Natural History]
Sedoud B (2026). [PMID: 41816054](https://pubmed.ncbi.nlm.nih.gov/41816054/). *Quant Imaging Med Surg*. [Diagnostic / Biomarker]
Gaine S (2025). [PMID: 40243965](https://pubmed.ncbi.nlm.nih.gov/40243965/). *JACC Clin Electrophysiol*. [Clinical Trial Publication]
Chaumont C (2025). [PMID: 39909314](https://pubmed.ncbi.nlm.nih.gov/39909314/). *Heart Rhythm*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC
Online Mendelian Inheritance in Man