【作者】 王婷；

【导师】 樊晓寒；

【作者基本信息】 郑州大学 ， 内科学（心血管病）（专业学位）， 2021， 硕士

【摘要】 研究背景儿茶酚胺敏感性多形性室性心动过速(catecholaminergic polymorphic ventricular tachycardia,CPVT)是一种致死性心律失常,该病的发生多与基因突变导致的钙离子处理功能障碍相关。CPVT患者拥有正常的心脏结构和收缩功能,静息心电图正常,但在交感神经系统兴奋(运动或情绪激动)时诱发双向或多形性室性心动过速,有时恶化为心室纤颤,临床上主要表现为运动或情绪诱发的晕厥和心脏骤停,有时也表现为心悸、头晕等。该病的发病率约为1/10000,多于儿童及青少年时期发病。对于这类患者,最基本的治疗原则是强调生活方式的改变:避免竞技运动、剧烈运动和紧张环境。除此之外,药物治疗、射频消融术、交感神经去除术、ICD植入术甚至基因疗法也都取得了相应的进展。目的总结确诊患者的发病特点、心律失常表现及治疗方案,比较不同治疗手段的效果,同时比较对不同起源处的室早或室速进行射频消融术的消融效果。方法回顾性分析自2008年4月到2020年9月就诊于中国医学科学院阜外医院并诊断为CPVT的19例患者的资料,并以发生心脏骤停或心脏性猝死为终点对患者进行电话随访,观察其预后情况。结果从2008年4月到2020年9月共19例诊断为CPVT的患者,其中男性8例,女性11例,发病年龄最小3岁,最大37岁,平均12.3±8.6岁,确诊年龄最小4.8岁,最大45岁,平均16.9±10.2岁。患者的临床表现主要是运动或情绪引起的晕厥、心悸、头晕、黑懵,其中2例曾有心脏骤停史。有4例患者进行了基因检测,致病突变检出率为75%。在19例患者中,除1例拒绝接受治疗外,其余18例患者均接受了不同的治疗方案:仅接受药物治疗的有2例,仅接受射频消融术的有1例,接受药物联合射频消融的患者有6例,药物联合ICD植入的有5例,药物联合射频消融及ICD植入的有2例,药物联合交感神经去除术的有1例,药物联合射频消融、交感神经去除、ICD植入的有1例。在药物治疗方面,本院仍以β受体阻滞剂作为患者治疗的基础。在所有非药物治疗方式中,本院应用最多的是射频消融术,术前、术中对他们进行异丙肾上腺素诱导,有6例可诱发出左心室或右心室起源的室早,其中4例可同时诱发左心室及右心室流出道的室早。进行相应靶点消融后异丙肾上腺素再次诱导,单纯左心室或右心室起源的的室早消融后数量及形态均较术前明显减少,而双室起源的室早消融后在部分患者中反而诱发处更多室早/室速或者诱发出与术前不同起源的室早。对接受药物联合射频消融术、药物联合ICD植入术、药物联合射频消融术及ICD植入术的3类患者的随访结果进行比较,药物联合射频消融组的7例患者中有2例猝死,而另外两组的7例患者则无心脏骤停或猝死事件的发生。以发生心脏骤停或猝死为随访终点对所有患者进行电话随访,平均随访32.4±34.3个月,共2例患者失访。1例拒绝接受任何治疗的患者在出院11个月后发生心脏骤停并导致脑损伤,1例接受射频消融术的患者术后1年猝死,1例接受射频消融联合药物治疗的患者术后1月猝死。其余患者随访期间晕厥次数均明显减少或者消失。结论对单室起源的室早诱发室性心律失常的CPVT患者,可给予相对靶点的射频消融术以减少心律失常的发作。对有心脏骤停或心脏性猝死风险的CPVT患者,建议植入ICD以降低这种风险。更多还原

【Abstract】 BackgroundCatecholaminergic polymorphic ventricular tachycardia(CPVT)is a kind of fatal malignant ventricular arrhythmias,and its pathogenesis is mainly related to calcium ion processing dysfunction caused by gene mutation.Patients with this disease have normal cardiac structure and systolic function,and normal resting ECG.However,bidirectional or pleomorphic ventricular tachycardia is induced when the sympathetic nervous system(movement or emotional)is excited,sometimes deteriorating into ventricular fibrillation.The main clinical manifestations of patients are syncope and cardiac arrest induced by movement or emotion,and sometimes the manifestations are palpitation and dizziness,etc.The incidence of the disease is about1 in 10,000(1),and most often occurs in childhood and adolescence.Fundamental to the treatment of these patients is the emphasis on lifestyle changes: avoiding competitive sports,strenuous exercise,and stressful environments(2).There have also been advances in drug therapy,radiofrequency ablation,sympathetic nerve removal,ICD implantation and even gene therapy.ObjectiveThe clinical characteristics,arrhythmia manifestations and treatment plan of the diagnosed patients were summarized.The effects of different treatment methods were compared,and the ablation effects of radiofrequency ablation for ventricular premature or ventricular tachycardia of different origins were compared.MethodsThe data of 19 patients diagnosed with CPVT who were admitted to Fuwai Hospital,Chinese Academy of Medical Sciences from April 2008 to September 2020 were retrospectively analyzed,and the patients were followed up by telephone to observe their prognosis.ResultsFrom April 2008 to September 2020,there were a total of 19 patients diagnosed with CPVT,including 8 males and 11 females.The minimum age of onset was 3years old and the maximum age was 37 years old,with an average of 12.28±8.41 years old.The minimum age of diagnosis was 4.83 years old and the maximum age was 45 years old,with an average of 16.87±10.23 years old.The main clinical manifestations of the patients were syncope,palpitation,dizziness and blackness caused by movement or emotion,and 2 of them had a history of cardiac arrest.Genetic testing was performed in 4 cases,and the detection rate of pathogenic mutation was 75%.Of the 19 patients,with the exception of 1 patient who refused treatment,the remaining 18 patients received different treatment regimens:2 patients received only drug therapy,1 patient received only radiofrequency ablation,6 patients received combined drug radiofrequency ablation,5 patients received combined drug ICD implantation,and 2 patients received combined drug radiofrequency ablation and ICD implantation.One patient received drug combined sympathetic nerve removal,and one patient received drug combined radiofrequency ablation,sympathetic nerve removal,and ICD implantation.In terms of drug therapy,our center still takes β-blockers as the basis of patient treatment.Among all the non-drug treatment methods,radiofrequency ablation was the most widely used in our center.Isoproterenol induction was performed preoperatively and intraoperatively,and left ventricular or right ventricular origin PVCs were induced in 6 cases,among which 4 cases could induce both left ventricular and right ventricular outflow tract PVCs.After the re-induction of isoproterenol after the corresponding site ablation,the number and morphology of PVCs with single left or right ventricle origin were significantly reduced compared with those before the ablation.However,after the dual-ventricle origin ablation,in some patients,more PVCs or tachycardia were induced,or PVCs with different origins than those before the ablation.All patients were followed up by telephone with the occurrence of cardiac arrest or sudden death as the end point of follow-up,with a mean follow-up of 32.4±34.3months,and 2 patients were lost to follow-up.One patient who received no treatment had a cardiac arrest 11 months after discharge,one patient who received radiofrequency ablation died suddenly 1 year after surgery,and one patient who received radiofrequency ablation combined with medication died suddenly 1 month after surgery.The frequency of syncope in other patients decreased or disappeared during the follow-up period.ConclusionFor CPVT patients with ventricular premature induced ventricular arrhythmias of single ventricular origin,relative target radiofrequency ablation can be administered to reduce the onset of arrhythmias.For patients with CPVT who are at risk of cardiac arrest or sudden cardiac death,an ICD is recommended to reduce this risk.更多还原