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

Sania Jiwani; Amit Noheria

doi:10.1016/j.ipej.2023.06.001

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

Indian Pacing Electrophysiol J. 2023 Sep-Oct;23(5):158-162. doi: 10.1016/j.ipej.2023.06.001. Epub 2023 Jun 8.

Authors

Sania Jiwani¹, Amit Noheria²

Affiliations

¹ Department of Cardiovascular Medicine, The University of Kansas Medical Center, Kansas City, KS, USA.
² Department of Cardiovascular Medicine, The University of Kansas Medical Center, Kansas City, KS, USA. Electronic address: noheriaa@gmail.com.

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.

Keywords: Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor 2; Selective serotonin reuptake inhibitors.

Publication types

Case Reports