摘要： 目的分析儿茶酚胺敏感性室性心动过速（CPVT）患儿的临床特点、治疗及随访结果。方法回顾性分析2017年3月至2021年5月西安市儿童医院临床确诊CPVT患儿的临床资料及基因检测结果，并对患儿进行随访。结果共6例患儿纳入研究，均有运动或情绪激动诱发晕厥表现，首次发病年龄4.0~8.2岁，平均（6.0±1.8）岁，确诊年龄7.0~14.0岁，平均（9.7±2.6）岁，延迟诊断时间0.1~8.0年。3例诊断癫痫，1例诊断晕厥待查，2例诊断复杂性心律失常。5例动态心电图记录到典型的多形性室性心动过速，1例体表心电图记录到心室颤动。5例基因检测发现RYR2基因杂合突变，1例基因检测发现CASQ2基因纯合突变。随访时间0.6~4.1年，4例规律口服β受体阻滞剂单药治疗，其中1例联合口服盐酸普罗帕酮治疗。3例无自觉症状，2例晕厥后出现严重脑损伤，1例猝死。结论 CPVT恶性程度高，容易误诊，β受体阻滞剂可在一定程度上减少心脏事件的发生，儿科医师应提高对本病的认识，对确诊患儿应给予规范治疗并定期随访。

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

路晓晓¹, 彭军², 李环³, 武海滨⁴, 张艳敏^3,4

1. 西安医学院研究生处, 西安 710021;
2. 西安交通大学附属儿童医院 (西安市儿童医院) 心电诊断科, 西安 710003;
3. 西安交通大学附属儿童医院 (西安市儿童医院) 心血管内科, 西安 710003;
4. 陕西省儿童疾病精准医学重点实验室, 陕西省儿科疾病研究所, 西安 710003

收稿日期:2021-07-20出版日期:2022-05-30发布日期:2022-05-28
通讯作者:张艳敏
作者简介:路晓晓(1994-),女,医师,硕士.
基金资助:国家自然科学基金（81974014，81470452）；陕西省科技厅项目（2021JQ-929）；西安市儿童医院院级项目（2019D05）


关键词: 儿茶酚胺敏感性, 室性心动过速, 延误诊断, 治疗
Abstract: Objective To analyze the clinical characteristics and follow-up results of children with catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods The clinical data and gene results of the patients with clinically diagnosed CPVT in Xi'an Children's Hospital from March 2017 to May 2021 were retrospectively analyzed,and the patients were followed up. Results A total of six patients were included in the study. All of them presented with motion or emotion-induced syncope. The age of first onset was 4.0 to 8.2 years,with a mean of 6.0±1.8 years,and the age of diagnosis was 7.0 to 14.0 years,with a mean of 9.7±2.6 years old. Delayed diagnosis ranged from 0.1 to 8.0 years. Three patients were diagnosed with epilepsy,one patient was diagnosed with syncope,and two patients were diagnosed with complex arrhythmia. The typical pleomorphic ventricular tachycardia was recorded in five patients by Holter,and ventricular fibrillation was recorded in one patient by 12-lead ECG. Heterozygous mutation of RyR2 gene was found in five patients and homozygous mutation of CASQ2 gene was found in one patient. The patients were follow-up for 0.6 to 4.1 years. Four patients were treated with regular oral β-blockers monotherapy,and one of them was treated with oral β-blockers with oral propafenone hydrochloride. There were no complaints of discomfort in three patients,severe brain injury after syncope in two patients,and sudden death in one patient. Conclusion CPVT has a high malignant potential and is easy to be misdiagnosed. β-blockers can reduce the incidence of cardiac events. Pediatricians should improve the understanding of CPVT and strengthen patient compliance education. The patients with CPVT should be given standard treatment and regular follow-up.
Key words: catecholamine polymorphic, ventricular tachycardia, delayed diagnosis, treatment
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