目的 探讨儿童PRKAG2心脏综合征（PCS）患者的临床和遗传学特点。方法 回顾性分析1999年9月至2022年10月上海儿童医学中心确诊为PCS患儿的临床资料和基因检测结果。结果 共纳入7例PCS患儿，其中男6例，女1例，发病中位年龄9.0（3.0~12.0）岁。其中5例患儿出现不同程度心肌肥厚，4例合并心室预激，2例合并房室传导阻滞，1例合并窦性静止。7例患儿中检测到PRKAG2基因的6种不同的错义突变，包含2个新发现的突变（F293V，Q337H）。中位随访时间3.0（2.0~3.8）年，其中1例患儿进展为终末期心衰接受心脏移植、1例因为三度房室传导阻滞安装了永久性心脏起搏器，2例因为左室流出道梗阻分别接受了改良扩大Morrow手术和室间隔射频消融手术。结论 PCS是儿童肥厚型心肌病的少见病因，容易发生传导系统病变，对于合并预激综合征或缓慢性心律失常的肥厚型心肌病患儿，需要注意该病的筛查。

Objective To investigate the clinical and genetic characteristics of PRKAG2 cardiac syndrome (PCS) in Chinese pediatric patients. Methods A retrospective analysis was conducted on the clinical data and genetic testing results of patients diagnosed with PCS at Shanghai Children's Medical Center from September 1999 to October 2022. Results Seven pediatric patients were included in this study, six males and one female, with a median age of onset of 9.0 (3.0-12.0) years. Five patients had varying degrees of left ventricular hypertrophy, four had ventricular preexcitation, two had atrioventricular conduction block, and one experienced sinus arrest.Six variants in the PRKAG2 gene were identified among the seven patients, including two novel mutations (F293V, Q337H). During a median follow-up of 3.0 (2.0-3.8)years, one patient progressed to end-stage heart failure and underwent heart transplantation, one received a pacemaker due to complete atrioventricular block, and two underwent septal reduction therapy for left ventricular outflow obstruction (septal myectomy or septal radiofrequency ablation, respectively). Conclusions PCS is a rare cause of hypertrophic cardiomyopathy in children, often associated with conduction system abnormalities. It is crucial to consider screening for PCS in pediatric patients with hypertrophic cardiomyopathy who present with pre-excitation syndrome or bradyarrhythmias.