Abstract
Name of the disease (synonyms): Synonyms: Familial polymorphic ventricular tachycardia (FPVT), catecholamine-induced polymorphic ventricular tachycardia (CPVT). Includes: RYR2-related catecholaminergic ventricular tachycardia, CASQ2-related catecholaminergic ventricular tachycardia OMIM# of the disease: 604772, 611938 Name of the analysed genes or DNA/chromosome segments: RyR2, cardiac ryanodine receptor OMIM# of the gene(s): 180902, 114251 Two genes are clearly associated with CPVT (RyR2 autosomal dominant, and CASQ2 autosomal recessive). Triadin mutations have been also shown in two CPVT families but data need confirmation. Therefore, clinical testing is not indicated. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the RyR2 gene in diagnostic, predictive and prenatal settings and for risk assessment in relatives.
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