Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort
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 cl...
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Elsevier
2025-08-01
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| Series: | Journal of the Formosan Medical Association |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664624003413 |
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| author | Grace Chia-Yen Hsu Mei-Hwan Wu Jing-Yuan Chuang Shuenn-Nan Chiu Ming-Tai Lin Ling-Ping Lai Shih-Fan Sherri Yeh Sheng-Fu Liu Ting-Tse Lin Fu-Tien Chiang Jyh-Ming Jimmy Juang |
| author_facet | Grace Chia-Yen Hsu Mei-Hwan Wu Jing-Yuan Chuang Shuenn-Nan Chiu Ming-Tai Lin Ling-Ping Lai Shih-Fan Sherri Yeh Sheng-Fu Liu Ting-Tse Lin Fu-Tien Chiang Jyh-Ming Jimmy Juang |
| author_sort | Grace Chia-Yen Hsu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-afd6f584f9a84535b5ecb0d493a8ea0d |
| institution | Kabale University |
| issn | 0929-6646 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
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| series | Journal of the Formosan Medical Association |
| spelling | doaj-art-afd6f584f9a84535b5ecb0d493a8ea0d2025-08-20T03:35:43ZengElsevierJournal of the Formosan Medical Association0929-66462025-08-01124870070510.1016/j.jfma.2024.07.021Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohortGrace Chia-Yen Hsu0Mei-Hwan Wu1Jing-Yuan Chuang2Shuenn-Nan Chiu3Ming-Tai Lin4Ling-Ping Lai5Shih-Fan Sherri Yeh6Sheng-Fu Liu7Ting-Tse Lin8Fu-Tien Chiang9Jyh-Ming Jimmy Juang10Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Medical Laboratory Science and Biotechnology, China Medical University, Taichung, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanCardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Environmental and Occupational Medicine, National Taiwan University Hospital, Hsin-Chu branch, TaiwanCardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Hsin-Chu Branch, Hsin-Chu, TaiwanCardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDivision of Cardiology, Department of Internal Medicine, Fu Jen Catholic University Hospital, TaiwanCardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan; Corresponding author. Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei, 10008, Taiwan.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.http://www.sciencedirect.com/science/article/pii/S0929664624003413Catecholaminergic polymorphic ventricular tachycardia (CPVT)Ventricular arrhythmiaInheritable arrhythmiaSudden cardiac deathPopulation genetics and genomics |
| spellingShingle | Grace Chia-Yen Hsu Mei-Hwan Wu Jing-Yuan Chuang Shuenn-Nan Chiu Ming-Tai Lin Ling-Ping Lai Shih-Fan Sherri Yeh Sheng-Fu Liu Ting-Tse Lin Fu-Tien Chiang Jyh-Ming Jimmy Juang Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort Journal of the Formosan Medical Association Catecholaminergic polymorphic ventricular tachycardia (CPVT) Ventricular arrhythmia Inheritable arrhythmia Sudden cardiac death Population genetics and genomics |
| title | Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort |
| title_full | Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort |
| title_fullStr | Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort |
| title_full_unstemmed | Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort |
| title_short | Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort |
| title_sort | genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a taiwanese nationwide cohort |
| topic | Catecholaminergic polymorphic ventricular tachycardia (CPVT) Ventricular arrhythmia Inheritable arrhythmia Sudden cardiac death Population genetics and genomics |
| url | http://www.sciencedirect.com/science/article/pii/S0929664624003413 |
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