Shubhayan Sanatani

Aug 27, 2024 | heartrhythmjournal.com | Shubhayan Sanatani |Thomas M. Roston

With increased genetic testing, sudden cardiac arrest (SCA) survivors who carry variants in the cardiac ryanodine receptor (RYR2) gene but do not have the pathognomonic findings of catecholaminergic polymorphic ventricular tachycardia (CPVT) on exercise testing were identified. Functional studies confirmed a loss-of-function (LoF) RYR2 variant in these patients in contrast to gain-of-function variants causing CPVT.