Heart on Fire: Unmasking RyR2 Mutation in Stress-Induced Ventricular Arrhythmias

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmogenic disorder that can lead to sudden cardiac death (SCD) in young individuals with structurally normal hearts. This case report presents a novel instance of CPVT caused by a Ryanodine receptor channel-2 (RyR2) gene mutation in a young adult. A 24-year-old male presented with recurrent syncope and pre-syncopal episodes. Initial cardiac evaluations, including electrocardiography and echocardiography, were unremarkable. The patient experienced multiple syncopal events, including an episode of aborted SCD. Implantation of a loop recorder and subsequent implantable cardioverter-defibrillator (ICD) revealed recurrent ventricular tachycardia (VT). Comprehensive genetic testing identified a pathogenic mutation in the RyR2 gene, confirming the diagnosis of CPVT. The patient was initiated on beta-blocker therapy (propranolol) for primary prevention of VT episodes and to reduce ICD interventions. The ICD was maintained for secondary prevention. This case underscores the importance of considering genetic arrhythmia syndromes in the differential diagnosis of unexplained syncope in young adults, even when initial cardiac assessments appear normal. It also highlights the critical role of genetic testing in the diagnosis and management of inherited cardiac conditions and emphasizes the need for family screening due to the autosomal dominant inheritance pattern of RyR2 mutations.