Journal of Clinical Pediatrics >
Progress in mechanisms, diagnosis and therapeutic management of catecholaminergic polymorphic ventricular tachycardia
Received date: 2024-07-02
Accepted date: 2024-11-08
Online published: 2025-02-27
Catecholaminergic polymorphic ventricular tachycardia is a hereditary cardiac channelopathy. Most cases are related to mutations in the RYR2 and CASQ2 genes, which severely disrupt the calcium homeostasis in cardiac cells. Excessive calcium release leads to delayed depolarization, ultimately leading to arrhythmia. This disease is seen in patients who experience syncope after intense exercise or stress-related emotions, as well as in patients with sudden cardiac arrest or even sudden cardiac death. It is mainly diagnosed through exercise stress testing and genetic testing. Standard treatment for CPVT relies on beta-blockers, while flucainide and left ventricular sympathetic nerve denervation are second-line treatments. Implantation of cardioverter defibrillators is suitable for patients at a high risk of sudden death, and some potential therapeutic interventions have also been identified. This review summarizes the genetics, pathophysiology, clinical features, diagnosis, and treatment strategies of CPVT, with the aim of providing clinical guidance.
YAN Ge , HOU Cuilan , XIAO Tingting . Progress in mechanisms, diagnosis and therapeutic management of catecholaminergic polymorphic ventricular tachycardia[J]. Journal of Clinical Pediatrics, 2025 , 43(3) : 220 -225 . DOI: 10.12372/jcp.2025.24e0677
| [1] | Baltogiannis GG, Lysitsas DN, di Giovanni G, et al. CPVT: arrhythmogenesis, therapeutic management, and future perspectives. A brief review of the literature[J]. Front Cardiovasc Med, 2019, 6: 92. |
| [2] | Abbas M, Miles C, Behr E. Catecholaminergic polymorphic ventricular tachycardia[J]. Arrhythm Electrophysiol Rev, 2022, 11: e20. |
| [3] | 路晓晓, 彭军, 李环, 等. 儿茶酚胺敏感性室性心动过速的临床特点及随访结果分析[J]. 中国医科大学学报, 2022, 51(5): 385-389. |
| Lu XX, Peng J, Li H, et al. Clinical characteristics and follow-up results of catecholaminergic polymorphic ventricular tachycardia[J]. Zhongguo Yike Daxue Xuebao, 2022, 51(5): 385-389. | |
| [4] | Pflaumer A, Wilde AAM, Charafeddine F, et al. 50 Years of catecholaminergic polymorphic ventricular tachycardia (CPVT) - time to explore the dark side of the moon[J]. Heart Lung Circ, 2020, 29(4): 520-528. |
| [5] | Gray B, Behr ER. New insights into the genetic basis of inherited arrhythmia syndromes[J]. Circ Cardiovasc Genet, 2016, 9(6): 569-577. |
| [6] | Wleklinski MJ, Kannankeril PJ, Knollmann BC. Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia[J]. Physiol, 2020, 598(14): 2817-2834. |
| [7] | Blackwell DJ, Faggioni M, Wleklinski MJ, et al. The Purkinje-myocardial junction is the anatomic origin of ventricular arrhythmia in CPVT[J]. JCI Insight, 2022, 7(3): e151893. |
| [8] | Bergeman AT, Wilde AAM, van der Werf C. Catecholaminergic polymorphic ventricular tachycardia: a review of therapeutic strategies[J]. Card Electrophysiol Clin, 2023, 15(3): 293-305. |
| [9] | Walsh R, Adler A, Amin AS, et al. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death[J]. Eur Heart J, 2022, 43(15): 1500-1510. |
| [10] | Pérez PR, Hylind RJ, Roston TM, et al. Gene therapy for catecholaminergic polymorphic ventricular tachycardia[J]. Heart Lung Circ, 2023, 32(7): 790-797. |
| [11] | Nozaki Y, Kato Y, Uike K, et al. Co-phenotype of left ventricular non-compaction cardiomyopathy and atypical catecholaminergic polymorphic ventricular tachycardia in association with R169Q, a ryanodine receptor type 2 missense mutation[J]. Circ J, 2020, 84(2): 226-234. |
| [12] | Lahrouchi N, Raju H, Lodder EM, et al. Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome[J]. Am Coll Cardiol, 2017, 69(17): 2134-2145. |
| [13] | Abdullah NM, Ali A. RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review[J]. Transl Pediatr, 2024, 13(2): 359-369. |
| [14] | Kim CW, Aronow WS, Dutta T, et al. Catecholaminergic polymorphic ventricular tachycardia[J]. Cardiol Rev, 2020, 28(6): 325-331. |
| [15] | Henriquez E, Hernandez EA, Mundla SR, et al. Catecholaminergic polymorphic ventricular tachycardia and gene therapy: a comprehensive review of the literature[J]. Cureus, 2023, 15(10): e47974. |
| [16] | Petrungaro M, Scarà A, Borrelli A, et al. CPVT and complete atrio-ventricular block: the flipside of the same coin[J]. Cardiovasc Dev Dis, 2023, 10(3): 97. |
| [17] | Oreto L, Briuglia S, Capra AP, et al. Bidirectional ventricular tachycardia and prominent U waves: look at fingers and muscles and use flecainide[J]. Pediatr Pharmacol Ther, 2023, 28(7): 662-666. |
| [18] | Behere SP, Weindling SN. Catecholaminergic polymorphic ventricular tachycardia: an exciting new era[J]. Ann Pediatr Cardiol, 2016, 9(2): 137-146. |
| [19] | 李奇蕊, 袁越, 高路, 等. CASQ2基因变异致儿童儿茶酚胺敏感性多形性室性心动过速的临床及遗传学特点分析[J]. 中华实用儿科临床杂志, 2021, 36(13): 999-1003. |
| Li QR, Yuan Y, Gao L, et al. Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia in children with CASQ2 variants[J]. Zhonghua Shiyong Erke Linchuang Zazhi, 2021, 36(13): 999-1003. | |
| [20] | 戈海延, 李小梅, 江河, 等. 平板运动试验对儿童儿茶酚胺敏感性多形性室性心动过速的诊治价值分析[J]. 中国心血管杂志, 2021, 26(1): 21-26. |
| Ge HY, Li XM, Jiang H, et al. Value of treadmill exercise test in children with catecholaminergic pleomorphic ventricular tachycardia[J]. Zhongguo Xinxueguan Zazhi, 2021, 26(1): 21-26. | |
| [21] | Roston TM, Kallas D, Davies B, et al. Burst exercise testing can unmask arrhythmias in patients with incompletely penetrant catecholaminergic polymorphic ventricular tachycardia[J]. JACC Clin Electrophysiol, 2021, 7(4): 437-441. |
| [22] | Imberti JF, Underwood K, Mazzanti A, et al. Clinical challenges in catecholaminergic polymorphic ventricular tachycardia[J]. Heart Lung Circ, 2016, 25(8): 777-783. |
| [23] | Zeppenfeld K, Tfelt-Hansen J, de Riva M, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death[J]. Eur Heart J, 2022, 43(40): 3997-4126. |
| [24] | Mareddy C, ScM MT, McDaniel G, et al. Exercise in the genetic arrhythmia syndromes - a review[J]. Clin Sports Med, 2022, 41(3): 485-510. |
| [25] | Mazzanti A, Kukavica D, Trancuccio A, et al. Outcomes of patients with catecholaminergic polymorphic ventricular tachycardia treated with β-blockers[J]. JAMA Cardiol, 2022, 7(5): 504-512. |
| [26] | Peltenburg PJ, Kallas D, Bos JM, et al. An international multicenter cohort study on β-blockers for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardia[J]. Circulation, 2022, 145(5): 333-344. |
| [27] | Kawata H, Ohno S, Aiba T, et al. Catecholaminergic polymorphic ventricular tachycardia (CPVT) associated with ryanodine receptor (RyR2) gene mutations - long-term prognosis after initiation of medical treatment[J]. Circ J, 2016, 80(9): 1907-1915. |
| [28] | Itoh H, Murayama T, Kurebayashi N, et al. Sudden death after inappropriate shocks of implantable cardioverter defibrillator in a catecholaminergic polymorphic ventricular tachycardia case with a novel RyR2 mutation[J]. Electrocardiol, 2021, 69: 111-118. |
| [29] | Petrungaro M, Scarà A, Borrelli A, et al. CPVT and complete atrio-ventricular block: the flipside of the same coin[J]. Cardiovasc Dev Dis, 2023, 10(3): 97. |
| [30] | McNamara C, Cullen P, Rackauskas M, et al. Left cardiac sympathetic denervation: case series and technical report[J]. Ir J Med Sci, 2017, 186(3): 607-613. |
| [31] | 杨靖, 李锟, 陈东红, 等. 平板运动试验评价左颈部交感神经节切除术治疗遗传性心律失常的有效性初探[J]. 中华心血管病杂志, 2021, 49(8): 796-801. |
| Yang J, Li K, Chen DH, et al. Treatment efficiency evaluation of left cardiac sympathetic denervation for patients with inherited arrhythmia by exercise-stress test[J]. Zhonghua Xinxueguan Zazhi, 2021, 49(8): 796-801. | |
| [32] | Dusi V, De Ferrari GM, Pugliese L, et al. Cardiac sympathetic denervation in channelopathies[J]. Front Cardiovasc Med, 2019, 6: 27. |
| [33] | Cho Y. Left cardiac sympathetic denervation: an important treatment option for patients with hereditary ventricular arrhythmias[J]. Arrhythm, 2016, 32(5): 340-343. |
| [34] | Batiste SM, Blackwell DJ, Kim K, et al. Unnatural verticilide enantiomer inhibits type 2 ryanodine receptor-mediated calcium leak and is antiarrhythmic[J]. Proc Natl Acad Sci U S A, 2019, 116(11): 4810-4815. |
| [35] | Zhang XH, Wei H, Xia Y, et al. Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R[J]. Heart Rhythm, 2021, 18(2): 250-260. |
| [36] | Kawada S, Morita H, Watanabe A, et al. Radiofrequency catheter ablation for drug-refractory atrial tachyarrhythmias in a patient with catecholaminergic polymorphic ventricular tachycardia: a case report[J]. Cardiol Cases, 2018, 19(1): 36-39. |
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