Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.
Journal
Journal of the Formosan Medical Association = Taiwan yi zhi
Journal Volume
124
Journal Issue
8
Start Page
700
End Page
705
ISSN
0929-6646
Date Issued
2025-08
Author(s)
Hsu, Grace Chia-Yen
Chuang, Jing-Yuan
Yeh, Shih-Fan Sherri
Abstract
Background
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and lethal arrhythmia. Ryanodine receptor 2 (RYR2) mutation accounts for ∼60% of CPVT patients which is inherited in an autosomal dominant pattern.
Objective
This study aimed to identify CPVT-related mutations and clinical characteristics among Taiwanese CPVT patients and compare to other cohorts worldwide.
Methods
Clinical and genetic data were obtained from the Sudden Arrhythmia Death Syndrome Registry in Taiwan (SADS-TW). Forty clinically diagnosed Taiwanese CPVT patients were included.
Results
This is the first nationwide CPVT cohort in Taiwan. Among the 29 Taiwanese patients with CPVT-related gene mutations, 55% had RYR2 mutations, a rate similar to other ethnicities. Three out of 12 RYR2 variants were unreported. Exercise-induced symptoms including syncope and cardiac arrest were more frequent in East Asian cohorts (Taiwanese 79%, Japanese 91%), compared to Caucasian cohorts (59%) (p = 0.002).
Conclusion
The discovery of diverse RYR2 mutations in the Taiwanese CVPT population demonstrates the importance of genetic testing in different ethnicities.
Subjects
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Inheritable arrhythmia
Population genetics and genomics
Sudden cardiac death
Ventricular arrhythmia
Type
journal article