Related Experiment Video
Updated: Jul 27, 2025

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
Novel mutation in N-terminal fragment of ryanodine receptor 2 causing catecholaminergic polymorphic ventricular
1Department of Cardiovascular Medicine, The University of Kansas Medical Center, Kansas City, KS, USA.
Abstract:
CPVT is a rare inherited arrhythmogenic disorder characterized by bidirectional, polymorphic ventricular arrhythmias triggered by catecholamines released during exercise, stress, or sudden emotion in individuals with a normal resting electrocardiogram and structurally normal heart. Mutations in the ryanodine receptor 2 gene are the most common known etiology of this disorder. The c.1195A > G(p.Met399Val) variant in Exon 14 of RyR2 is currently classified as a Variant of Uncertain Significance. We present a case of CPVT caused by this novel disease-causing RyR2 variant and discuss its pathophysiology. The role of SSRIs in treating patients with CPVT unresponsive to mainstream therapies is also highlighted.
Related Concept Videos
Cardiomyopathy I: Introduction and Classification
Mechanism of Cardiac Arrhythmias
Dysrhythmias II: Classification of Tachyarrhythmias
Antiarrhythmic Drugs: Class II Agents as β-Adrenergic Blockers
Cardiomyopathy II: Dilated Cardiomyopathy
Dysrhythmias III: Characteristics of Dysrhythmias

