Familial isolated arrhythmogenic right ventricular dysplasia: genes and variants
Familial isolated arrhythmogenic right ventricular dysplasia is linked to 4 analyzed proteins (PKP2, TMEM43, DSC2 and DSP). 2 DNA variants are known to cause it; 326 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial isolated arrhythmogenic right ventricular dysplasia
PKP2: Plakophilin-2
It organizes cardiac desmosomes and helps maintain both mechanical adhesion and electrical coupling between cardiomyocytes. Pathogenic variants are a major cause of arrhythmogenic cardiomyopathy and increase susceptibility to ventricular arrhythmias and sudden cardiac death.
1 disease-causing and 0 uncertain variants in PKP2 are linked to Familial isolated arrhythmogenic right ventricular dysplasia.
TMEM43: Transmembrane protein 43
A multi-pass membrane protein that helps organize protein complexes at the inner nuclear membrane and retain emerin. It also participates in innate-immune signaling and contributes to electrical coupling in the inner ear, with variants linked to cardiomyopathy and auditory neuropathy.
1 disease-causing and 0 uncertain variants in TMEM43 are linked to Familial isolated arrhythmogenic right ventricular dysplasia.
DSC2: Desmocollin-2
Its desmosomal adhesion helps cardiomyocytes remain mechanically coupled during repeated contraction. Pathogenic variants can weaken cardiac junctions and contribute to arrhythmogenic cardiomyopathy.
0 disease-causing and 325 uncertain variants in DSC2 are linked to Familial isolated arrhythmogenic right ventricular dysplasia.
DSP: Desmoplakin
It anchors intermediate filaments to desmosomes, allowing mechanically stressed tissues such as myocardium and epidermis to maintain strong cell-cell adhesion. Pathogenic variants can cause arrhythmogenic or dilated cardiomyopathy and a range of cardiocutaneous disorders.
0 disease-causing and 0 uncertain variants in DSP are linked to Familial isolated arrhythmogenic right ventricular dysplasia.
Weakly linked (only a few uncertain records): BAG3.
Known disease-causing variants in Familial isolated arrhythmogenic right ventricular dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PKP2 C796R | 796 | ARM 7 | Disease-causing (★★) |
| TMEM43 S358L | 358 | Transmembrane | Disease-causing (★★) |
Diseases related to Familial isolated arrhythmogenic right ventricular dysplasia
- Arrhythmogenic right ventricular dysplasia, also linked to DSC2, DSP, PKP2 and TMEM43
- Arrhythmogenic right ventricular cardiomyopathy, also linked to DSC2, DSP and PKP2
- Hypertrophic cardiomyopathy, also linked to DSP
- Dilated cardiomyopathy, also linked to DSP
- Cardiac arrhythmia, also linked to DSP
- Auditory neuropathy, also linked to TMEM43
- Idiopathic pulmonary fibrosis, also linked to DSP
- Emery-Dreifuss muscular dystrophy, also linked to TMEM43
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, also linked to DSP
- Progressive familial heart block, also linked to DSP
- Keratosis palmoplantaris striata 2, also linked to DSP
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, also linked to DSP
Frequently asked questions
Which genes are linked to Familial isolated arrhythmogenic right ventricular dysplasia?
In CATVariant, Familial isolated arrhythmogenic right ventricular dysplasia is linked to 4 analyzed proteins: PKP2 (Plakophilin-2), TMEM43 (Transmembrane protein 43), DSC2 (Desmocollin-2) and DSP (Desmoplakin).
How many genetic variants are linked to Familial isolated arrhythmogenic right ventricular dysplasia?
410 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 326 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial isolated arrhythmogenic right ventricular dysplasia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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