Novel mutation in N-terminal fragment of ryanodine receptor 2 causing catecholaminergic polymorphic ventricular tachycardia.

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.

• Authors: Sania Jiwani, Amit Noheria
• Journal: Indian pacing and electrophysiology journal (Indian Pacing Electrophysiol J) 2023 Sep-Oct Vol. 23 Issue 5 Pg. 158-162 ISSN: 0972-6292 [Print] Netherlands
• PMID: 37301373 (Publication Type: Case Reports)
• Copyright: Copyright © 2023 Indian Heart Rhythm Society. Published by Elsevier B.V. All rights reserved.