Objective: To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children. Methods: A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022. Results: A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM. The clinical manifestations included decreased activity tolerance (7 patients), heart failure (4 patients), syncope or sudden death (3 patients), palpitation (3 patients), and chest tightness and pain (3 patients). Electrocardiogram showed right bundle branch block in 9 cases, paroxysmal ventricular tachycardia in 4 cases, frequent premature ventricular contraction in 4 cases, ventricular pre-excitation in 1 case, left bundle branch block in 1 case, and first degree atrioventricular block in 2 cases. Echocardiography showed enlargement of the right heart, widening of the right ventricular outflow tract, and thinning and bulging of the local wall of the right ventricle with reduced pulsation. Ventricular thrombosis was found in 2 cases. Six children underwent cardiac magnetic resonance imaging, which mainly showed severe enlargement of the right heart, thin free wall of the right ventricle, decreased right heart function, enhanced right ventricular myocardium, and formation of right ventricular aneurysm. Two children underwent myocardial biopsy examination and presented with typical pathological changes of ACM. Genetic tests in five patients revealed DSG2 gene mutation in 2 cases, PKP2 gene mutation in 2 cases, and MYH6 gene mutation in 1 case. All patients received anti heart failure treatment and antiarrhythmic drugs. Two children received anticoagulant treatment due to ventricular thrombosis. Radiofrequency ablation was performed in 2 patients. Glenn procedure was performed in 4 patients, and heart transplantation was performed in 1 patient due to progressive heart failure. The follow-up period ranged from 6 months to 12 years. Two cases died of right heart failure, 6 cases had different degrees of heart failure, 1 case had intermittent chest tightness and pain, and 2 cases were stable. Conclusions: ACM is a progressive genetic cardiomyopathy characterized by decreased activity tolerance, cardiac failure and arrhythmia in pediatric patients. The diagnosis is mainly based on clinical manifestations, electrocardiogram, cardiac imaging changes, and genetic testing. Early detection, diagnosis, and personalized treatment can improve the prognosis.
目的： 总结小儿致心律失常性心肌病（ACM）的临床表现及诊疗要点。 方法： 回顾性病例总结。选择2010年5月至2022年3月北京安贞医院小儿心脏中心确诊的11例ACM患儿为研究对象，总结其临床表现、实验室检查、影像学特点、治疗方法及随访结果。 结果： 11例ACM患儿中男5例、女6例，年龄2~16岁。临床表现包括活动耐受性降低7例、心力衰竭4例、晕厥或猝死3例、心悸3例、胸闷胸痛3例。心电图可见右束支传导阻滞9例、短阵室性心动过速4例、频发室性期前收缩4例、心室预激1例、左束支传导阻滞1例、一度房室传导阻滞2例。超声心动图均见右心扩大，右心室流出道增宽，右心室局部室壁变薄并向外膨出，搏动减弱，2例有心室血栓。6例行心脏磁共振成像检查，见右心高度扩大，右心室游离壁薄，右心功能减低，右心室心肌强化，右心室室壁瘤形成。2例行心肌活检，可见典型ACM病理改变。5例行基因学检查，2例DSG2基因突变、2例PKP2基因突变、1例MYH6基因突变。治疗方面，予积极抗心力衰竭及抗心律失常药物治疗，2例因心室血栓予抗凝治疗，2例行射频消融手术，4例行Glenn手术，1例行心脏移植术。随访时间6个月至12年，2例因右心衰竭死亡，6例存在不同程度心功能不全，1例间断胸闷、胸痛，2例病情平稳。 结论： 儿童ACM是以活动耐受性减低、心力衰竭及心律失常为突出表现的、进展性的遗传性心肌病，诊断主要依据临床表现、心电图、心脏影像学改变及基因检测进行诊断。早发现、早诊断、个体化治疗有助于改善预后。.