Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort

• Published in: Journal of the Formosan Medical Association Vol. 124; no. 8; pp. 700 - 705
• Main Authors: Hsu, Grace Chia-Yen, Wu, Mei-Hwan, Chuang, Jing-Yuan, Chiu, Shuenn-Nan, Lin, Ming-Tai, Lai, Ling-Ping, Yeh, Shih-Fan Sherri, Liu, Sheng-Fu, Lin, Ting-Tse, Chiang, Fu-Tien, Juang, Jyh-Ming Jimmy
• Format: Journal Article
• Language: English
• Published: Singapore Elsevier B.V 01.08.2025; Elsevier
• Subjects: Adolescent; Adult; Asian People - genetics; Catecholaminergic polymorphic ventricular tachycardia (CPVT); Cohort Studies; Female; Humans; Inheritable arrhythmia; Male; Middle Aged; Mutation; Polymorphic Catecholaminergic Ventricular Tachycardia; Population genetics and genomics; Registries; Ryanodine Receptor Calcium Release Channel - genetics; Sudden cardiac death; Tachycardia, Ventricular - ethnology; Tachycardia, Ventricular - genetics; Taiwan; Ventricular arrhythmia; Young Adult; Taiwan; Ventricular arrhythmia; Catecholaminergic polymorphic ventricular tachycardia (CPVT); Population genetics and genomics; Sudden cardiac death; Inheritable arrhythmia
• ISSN: 0929-6646
• DOI: 10.1016/j.jfma.2024.07.021

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. This study aimed to identify CPVT-related mutations and clinical characteristics among Taiwanese CPVT patients and compare to other cohorts worldwide. 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. 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). The discovery of diverse RYR2 mutations in the Taiwanese CVPT population demonstrates the importance of genetic testing in different ethnicities.