Analysis of cardiac ryanodine receptor (RyR2) variants in patients with short-coupled torsades de pointes identified variants with mild gain-of-function effects and reduced Ca2+ release.
Observational
BACKGROUND: Ventricular fibrillation may be caused by premature ventricular contractions (PVCs) whose coupling intervals are <300 ms, a characteristic of the short-coupled variant of torsades de pointes (scTdP). OBJECTIVE: The purpose of this study was to analyze the underlying cardiac ryanodine receptor (RyR2) variants in patients with scTdP. METHODS: H]ryanodine binding assay. RESULTS: release, while 2 other variants, p.Val1024Ile and p.Ala2673Val, had mild gain-of-function effects but were similar to the polymorphism p.Asn1551Ser. CONCLUSION: release and short-coupled torsades de pointes ventricular arrhythmia. The mechanisms of arrhythmogenesis remain unclear.
Fujii et al. (2016) conducted an observational in short-coupled variant of torsades de pointes (scTdP). Cardiac ryanodine receptor (RyR2) variant analysis was evaluated on Functional effects of RyR2 variants. Analysis of cardiac ryanodine receptor (RyR2) variants in patients with short-coupled torsades de pointes identified variants with mild gain-of-function effects and reduced Ca2+ release.