DSP encodes desmoplakin (2,871 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Skin Sun Exposed Lower leg (1,294 TPM) and Skin Not Sun Exposed Suprapubic (1,155 TPM).

Arrhythmogenic right ventricular dysplasia 8 is associated with mutations in the DSP gene on chromosome 6.

The DSP protein participates in DSPGs are secreted pathway.

DSP is classified as a druggable target with score 1.8.

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

Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia 8 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for arrhythmogenic right ventricular dysplasia 8.

115 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia 8. Research spans Epidemiology / Natural History (25%), Diagnostic / Biomarker (19%), and Case Report / Case Series (19%).

Recent Publications

• Kerkouri F (2026). [PMID: 41416696](https://pubmed.ncbi.nlm.nih.gov/41416696/). *European heart journal*. [Clinical Trial Publication]

• Zhang J (2026). [PMID: 41582809](https://pubmed.ncbi.nlm.nih.gov/41582809/). *Circ Heart Fail*. [Gene Therapy / Novel Therapeutics]

• Motoji Y (2026). [PMID: 40684400](https://pubmed.ncbi.nlm.nih.gov/40684400/). *General thoracic and cardiovascular surgery*. [Clinical Trial Publication]

• da Rocha GL (2026). [PMID: 41706057](https://pubmed.ncbi.nlm.nih.gov/41706057/). *Journal of the American College of Cardiology*. [Epidemiology / Natural History]

• Lu F (2026). [PMID: 41578471](https://pubmed.ncbi.nlm.nih.gov/41578471/). *Medicine (Baltimore)*. [Diagnostic / Biomarker]

• Gomez LE (2026). [PMID: 41953707](https://pubmed.ncbi.nlm.nih.gov/41953707/). *Case Rep Cardiol*. [Case Report / Case Series]

• De Marco C (2026). [PMID: 41608798](https://pubmed.ncbi.nlm.nih.gov/41608798/). *Circulation. Arrhythmia and electrophysiology*. [Diagnostic / Biomarker]

• Sedoud B (2026). [PMID: 41816054](https://pubmed.ncbi.nlm.nih.gov/41816054/). *Quant Imaging Med Surg*. [Diagnostic / Biomarker]

• Li X (2026). [PMID: 41535644](https://pubmed.ncbi.nlm.nih.gov/41535644/). *Functional & integrative genomics*. [Case Report / Case Series]

• Martini N (2026). [PMID: 41837920](https://pubmed.ncbi.nlm.nih.gov/41837920/). *JACC. Clinical electrophysiology*. [Diagnostic / Biomarker]