Clinical characteristics, genetic findings and arrhythmic outcomes of patients with catecholaminergic polymorphic ventricular tachycardia from China: A systematic review
Journal article
Leung, J., Lee, S., Zhou, J., Jeevaratnam, K., Lakhani, I., Radford, D., Coakley-Youngs, Emma, Pay, Levent, Çinier, G., Altinsoy, M., Behnoush, A., Mahmoudi, E., Matusik, P., Bazoukis, G., Garcia-Zamora, S., Zeng, S., Chen, Z., Xia, Y., Liu, T. and Tse, G. 2022. Clinical characteristics, genetic findings and arrhythmic outcomes of patients with catecholaminergic polymorphic ventricular tachycardia from China: A systematic review. Life. 12 (8), p. 1104. https://doi.org/10.3390/life12081104
| Authors | Leung, J., Lee, S., Zhou, J., Jeevaratnam, K., Lakhani, I., Radford, D., Coakley-Youngs, Emma, Pay, Levent, Çinier, G., Altinsoy, M., Behnoush, A., Mahmoudi, E., Matusik, P., Bazoukis, G., Garcia-Zamora, S., Zeng, S., Chen, Z., Xia, Y., Liu, T. and Tse, G. |
|---|---|
| Abstract | Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy. The present study aims to examine the clinical characteristics, genetic basis, and arrhythmic outcomes of CPVT patients from China to elucidate the difference between CPVT patients in Asia and Western countries. Methods: PubMed and Embase were systematically searched for case reports or series reporting on CPVT patients from China until 19 February 2022 using the keyword: “Catecholaminergic Polymorphic Ventricular Tachycardia” or “CPVT”, with the location limited to: “China” or “Hong Kong” or “Macau” in Embase, with no language or publication-type restriction. Articles that did not state a definite diagnosis of CPVT and articles with duplicate cases found in larger cohorts were excluded. All the included publications in this review were critically appraised based on the Joanna Briggs Institute Critical Appraisal Checklist. Clinical characteristics, genetic findings, and the primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. Results: A total of 58 unique cases from 15 studies (median presentation age: 8 (5.0–11.8) years old) were included. All patients, except one, presented at or before 19 years of age. There were 56 patients (96.6%) who were initially symptomatic. Premature ventricular complexes (PVCs) were present in 44 out of 51 patients (86.3%) and VT in 52 out of 58 patients (89.7%). Genetic tests were performed on 54 patients (93.1%) with a yield of 87%. RyR2, CASQ2, TERCL, and SCN10A mutations were found in 35 (71.4%), 12 (24.5%), 1 (0.02%) patient, and 1 patient (0.02%), respectively. There were 54 patients who were treated with beta-blockers, 8 received flecainide, 5 received amiodarone, 2 received verapamil and 2 received propafenone. Sympathectomy (n = 10), implantable cardioverter-defibrillator implantation (n = 8) and ablation (n = 1) were performed. On follow-up, 13 patients developed VT/VF. Conclusion: This was the first systematic review of CPVT patients from China. Most patients had symptoms on initial presentation, with syncope as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2, TERCL and SCN10A mutations. |
| Keywords | CPVT; RyR2; Catecholaminergic polymorphic ventricular tachycardia |
| Year | 2022 |
| Journal | Life |
| Journal citation | 12 (8), p. 1104 |
| Publisher | MDPI AG |
| ISSN | 2075-1729 |
| Digital Object Identifier (DOI) | https://doi.org/10.3390/life12081104 |
| Official URL | https://www.mdpi.com/2075-1729/12/8/1104 |
| Publication dates | |
| Online | 22 Jul 2022 |
| Publication process dates | |
| Accepted | 19 Jul 2022 |
| Deposited | 12 Aug 2024 |
| Publisher's version | License File Access Level Open |
| Output status | Published |
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https://repository.canterbury.ac.uk/item/98q57/clinical-characteristics-genetic-findings-and-arrhythmic-outcomes-of-patients-with-catecholaminergic-polymorphic-ventricular-tachycardia-from-china-a-systematic-review
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