RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.

ABSTRACT:

Background

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia, with pathogenic variants in the RYR2 gene responsible for 60% of clinically well-defined CPVT cases. Diagnosis of CPVT often occurs after a major cardiac event, posing a severe threat to the patient's life. A data set of patients with CPVT would improve the diagnosis and treatment of patients with CPVT.

Methods

This review cataloged clinical data on patients with RYR2-related CPVT variants from articles published up to October 2020 from PubMed, Scopus, and Embase. Variants were mapped to the structural domains of RYR2. Differences in the age of onset based on variant location and incidence of CPVT symptoms, and differences in treatment strategies were analyze

SUBMITTER: Chang A 

PROVIDER: S-EPMC12442783 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature