Abstract: Objective　To compare the diagnostic results and values for hypertrophic cardiomyopathy（HCM） in children between Expert Consensus on the Diagnosis of Hypertrophic Cardiomyopathy in Chinese Children（Served as domestic criteria） and 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy：Executive summary：A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines（Served as AHA/ACC guidelines）. Methods　The clinical data of 466 patients with myocardial hypertrophy who were treated in 32 hospitals during June 2015 to June 2019 were analyzed. The gold standard for diagnosisis the echocardiographic final follow-up results and genetic testing results，so as to compare the sensitivity，specificity and accuracy of the two criteria for the diagnosis of HCM. Results　For the entire group of cases，the most common echocardiographic examination in children with myocardial hypertrophy was interventricular septum and posterior wall hypertrophy（57.08%）,followed by interventricular septum hypertrophy（31.33%）；the third was posterior wall hypertrophy（9.23%），and the least was apical hypertrophy（2.36%）. Genetic testing were performed in 93 children，of which 32 cases were definitely pathogenic variants，27 cases were possibly pathogenic variants，and 34 cases had unkown clinical significance variants. Based on the gold standard，396 cases were diagnosed as HCM and others were excluded；370 cases were diagnosed and 96 cases were excluded according to the domestic consensus；346 cases were diagnosed and 120 cases were diagnosed as non-hypertrophic cardiomyopathy according to the AHA/ACC guidelines. The diagnostic specificity of the domestic consensus and AHA/ACC guidelines for all cases was 100%；the entire group of cases，cases were older than lyear old，and cases without genetic testing，the sensitivity and accuracy of the domestic consensus diagnosis were higher than those of AHA/ACC guidelines，and the Youden index of domestic consensus was higher than that of AHA/ACC guidelines（P＜0.01）；cases were younger than 1 year old，the diagnostic sensitivity and accuracy of AHA/ACC guidelines were slightly higher than those of domestic consensus，but there was no significant difference in Youden index（P＞0.05）. Conclusion　Domestic consensus and AHA/ACC guidelines can accurately diagnose HCM in children，but domestic consensus is more suitable for accurate diagnosis of HCM in children.

Key words: hypertrophic cardiomyopathy, child, expert consensus, diagnostic value, multicenter

摘要： 目的　比较《中国儿童肥厚型心肌病诊断的专家共识》（简称国内共识）与《2020年AHA/ACC肥厚型心肌病诊断及治疗指南》（简称AHA/ACC指南）对儿童肥厚型心肌病（HCM）的诊断价值。方法　回顾性分析2015年1月至2019年12月国内32家医院收治的466例心肌肥厚患儿的临床资料，以超声心动图最终随访结果和基因检测结果为金标准，分别按国内共识及AHA/ACC指南制定的诊断流程进行诊断，其诊断结果分为确诊和排除，比较国内共识和AHA/ACC指南对儿童HCM诊断的敏感度、特异度和准确度。结果　466例心肌肥厚患儿超声心动图检查以室间隔和左室后壁肥厚者最多（57.08%），其次为室间隔肥厚（31.33%），第3位为左室后壁肥厚（9.23%），心尖部肥厚患儿最少（2.36%）。93例患儿行基因检测，其中32例存在致病性变异，27例为可能致病性变异。按照金标准，全组病例中396例确诊为HCM，排除70例；按照国内共识确诊370例，排除96例；按照AHA/ACC指南确诊346例，排除120例。国内共识和AHA/ACC指南对所有病例的诊断特异度均为100%；对于全组病例、＞1岁病例和未行基因检测病例，国内共识诊断的敏感度和准确度均高于AHA/ACC指南，且国内共识的Youden指数高于AHA/ACC指南（P＜0.01）；对于≤1岁病例，AHA/ACC指南的诊断敏感度和准确度稍高于国内共识，但二者 Youden指数差异无统计学意义（P＞0.05）。结论　国内共识和AHA/ACC指南均可准确诊断儿童HCM，但国内共识更加适合于我国儿童HCM的精准诊断。

关键词: 肥厚型心肌病, 儿童, 专家共识, 诊断价值, 多中心研究