Key result
Review outlines genotype-specific approaches and genetic screening for arrhythmogenic right ventricular dysplasia.
Why the study?
Arrhythmogenic right ventricular dysplasia is a familial disease with variable clinical manifestations up to sudden cardiac death, and current screening of known genes detects mutations in only 60-65% of patients.
Current genetic screening identifies mutations in 60-65% of patients with arrhythmogenic right ventricular dysplasia.
The paper presents a literature review on the arrhythmogenic dysplasia of the right ventricle – a family disease with variable clinical manifestations up to the sudden cardiac death. For the time being screening of all the known genes allows to detect mutations only in 60–65% patients with arrhythmogenic dysplasia of the right ventricle. Domestic and foreign literature on this issue has been studied. Specific features of pathogenesis and clinical presentation of this category of patients are described, genotypespecific approach to the study of the disease is considered
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EVDOKIMOV et al. (2025) reported a review. No clinical trial data or primary endpoint results were reported as the document is a literature review on arrhythmogenic dysplasia of the right ventricle focusing on genotype-specific approaches.
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