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Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 7 | Cardiac arrest, Right ventricular cardiomyopathy, Fibrofatty replacement of right ventricular myocardium |
Lungs and breathing | 1 | Dyspnea |
PKP2 function has not been fully characterized.
Arrhythmogenic right ventricular dysplasia 9 is associated with mutations in the PKP2 gene on chromosome 12.
Genetic testing for PKP2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 9 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 common features.
No clinical trials have been registered for arrhythmogenic right ventricular dysplasia 9.
86 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 9. Research spans Epidemiology / Natural History (27%), Diagnostic / Biomarker (19%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 23 | 27% |
Testing and diagnosis research | 16 | 19% |
Patient case studies | 12 | 14% |
Research summaries | 9 | 10% |
Clinical study results | 9 | 10% |
Laboratory research | 8 | 9% |
Other research | 5 | 6% |
New treatment approaches | 4 | 5% |
Lin X (2026). [PMID: 42238264](https://pubmed.ncbi.nlm.nih.gov/42238264/). *Front Cardiovasc Med*. [Case Report / Case Series]
Togashi D (2026). [PMID: 41575719](https://pubmed.ncbi.nlm.nih.gov/41575719/). *J Interv Card Electrophysiol*. [Diagnostic / Biomarker]
Kerkouri F (2026). [PMID: 41416696](https://pubmed.ncbi.nlm.nih.gov/41416696/). *Eur Heart J*. [Epidemiology / Natural History]
Castelletti S (2026). [PMID: 42065946](https://pubmed.ncbi.nlm.nih.gov/42065946/). *J Cardiovasc Med (Hagerstown)*. [Epidemiology / Natural History]
Rattka M (2026). [PMID: 42086112](https://pubmed.ncbi.nlm.nih.gov/42086112/). *Int J Cardiol*. [Basic Science / Preclinical]
Chiba T (2026). [PMID: 41524034](https://pubmed.ncbi.nlm.nih.gov/41524034/). *J Arrhythm*. [Epidemiology / Natural History]
Liu W (2026). [PMID: 41972041](https://pubmed.ncbi.nlm.nih.gov/41972041/). *Quant Imaging Med Surg*. [Diagnostic / Biomarker]
Fu B (2026). [PMID: 41662985](https://pubmed.ncbi.nlm.nih.gov/41662985/). *Heart Rhythm*. [Clinical Trial Publication]
Li HH (2026). [PMID: 41603024](https://pubmed.ncbi.nlm.nih.gov/41603024/). *Zool Res*. [Basic Science / Preclinical]
Sedoud B (2026). [PMID: 41816054](https://pubmed.ncbi.nlm.nih.gov/41816054/). *Quant Imaging Med Surg*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC
Online Mendelian Inheritance in Man