背景:儿茶酚胺能多形性室性心动过速(CPVT)是一种罕见的遗传性心脏离子通道病。本研究旨在检查临床特征,遗传基础,和中国CPVT患者的心律失常结局,以阐明亚洲和西方国家CPVT患者之间的差异。
方法:使用关键字“儿茶酚胺能多形性室性心动过速”或“CPVT”,系统地搜索了截至2022年2月19日来自中国的CPVT患者的病例报告或系列报告,地点仅限于:Embase中的“中国”或“香港”或“澳门”,没有语言或发布类型限制。没有明确诊断CPVT的文章和在较大队列中发现重复病例的文章被排除。根据JoannaBriggsInstitute关键评估清单,对本次审查中包含的所有出版物进行了严格评估。临床特征,遗传发现,分析自发性室性心动过速/室颤(VT/VF)的主要结局。
结果:共纳入了来自15项研究(中位年龄:8(5.0-11.8)岁)的58例独特病例。所有患者,除了一个,在19岁或之前出现。最初有症状的患者有56例(96.6%)。51例患者中有44例(86.3%)存在过早心室复合体(PVC),58例患者中有52例(89.7%)存在室性心动过速。对54例患者(93.1%)进行了基因测试,产率为87%。RyR2,CASQ2,TERCL,在35个(71.4%)中发现了SCN10A突变,12(24.5%),1名(0.02%)患者,和1名患者(0.02%),分别。有54名患者接受了β受体阻滞剂治疗,8接受氟卡尼,5接受胺碘酮,2人接受维拉帕米,2人接受普罗帕酮。交感神经切除术(n=10),进行了植入式心律转复除颤器植入(n=8)和消融(n=1).关于后续行动,13例患者发生VT/VF。
结论:这是首次对来自中国的CPVT患者进行系统评价。大多数患者在初次就诊时都有症状,以晕厥为主诉。RyR2突变占CPVT病例的一半以上,其次是CASQ2、TERCL和SCN10A突变。
BACKGROUND: 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.
CONCLUSIONS: 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.