• Grace Chia-Yen Hsu, Mei-Hwan Wu, Jing-Yuan Chuang, Shuenn-Nan Chiu, Ming-Tai Lin, Ling-Ping Lai, YehShih-Fan SherriSSDepartment of Environmental and Occupational Medicine, National Taiwan University Hospital, Hsin-Chu branch, Taiwan., Sheng-Fu Liu, Ting-Tse Lin, Fu-Tien Chiang, JuangJyh-Ming JimmyJJCardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: jjmjuang@ntu.edu.tw., and SADS-TW CPVT registry.
• Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Taipei, Taiwan.
• J Formos Med Assoc. 2024 Aug 1.

BackgroundCatecholaminergic 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.ObjectiveThis study aimed to identify CPVT-related mutations and clinical characteristics among Taiwanese CPVT patients and compare to other cohorts worldwide.MethodsClinical and genetic data were obtained from the Sudden Arrhythmia Death Syndrome Registry in Taiwan (SADS-TW). Forty clinically diagnosed Taiwanese CPVT patients were included.ResultsThis 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).ConclusionThe discovery of diverse RYR2 mutations in the Taiwanese CVPT population demonstrates the importance of genetic testing in different ethnicities.Copyright © 2024 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.

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