中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (1): 37-44.DOI: 10.19538/j.ek2022010609

• 论著 • 上一篇    下一篇

《中国儿童肥厚型心肌病诊断的专家共识》诊断价值国内多中心研究 

  

  1. 执 笔:单光颂,袁 越,陈永红,安金斗,张艳敏,韩 玲,李自普 参加调查的单位和人员(根据提供病人数量排序):青岛市妇女儿童医院(王本臻,单光颂,李自普);浙江大学医学院附属儿童医院(章毅英);青岛大学附属医院(毛成刚,丛 娟);吉林大学第一医院(韩燕燕,孙景辉);湖南省儿童医院(陈 智);山东大学齐鲁医院(王敏敏,赵翠芬);中国医科大学附属盛京医院(邢艳琳,王 虹,于宪一);华中科技大学同济医学院附属武汉儿童医院(张 勇);西安交通大学附属儿童医院(张艳敏,王娟莉);首都医科大学附属北京儿童医院(袁 越);首都医科大学附属北京安贞医院(韩 玲,丁文虹);首都儿科研究所附属儿童医院(石 琳);四川大学华西第二医院(王晓琴);上海交通大学附属儿童医院(黄 敏);苏州大学附属儿童医院(孙 凌);上海交通大学医学院附属新华医院(赵鹏军);广东省妇幼保健院(李 虹);华中科技大学同济医学院附属协和医院(彭 华);复旦大学附属儿科医院(储 晨,刘 芳);南京医科大学第二附属医院(段玉清);重庆医科大学附属儿童医院(钟家蓉);秦皇岛市第一医院(刘 灵);北京大学第一医院(陈永红);郑州大学第一附属医院(安金斗,张瑞芳);聊城市人民医院(秦道刚);山西白求恩医院(王艳芬);哈尔滨市儿童医院(李 波);湖南省人民医院(龙湘党);河北省儿童医院(张英谦);兰州大学第二医院(杨轶男,董湘玉);河北医科大学第二医院(冯 琳);福建省立医院(杨 芳) 
  • 出版日期:2022-01-06 发布日期:2022-02-19
  • 通讯作者: 李自普,电子信箱:apuqd@ sina.com;韩玲,电子信箱:hanl6610@ sina.com

Diagnostic value of Expert Consensus on the Diagnosis of Hypertrophic Cardiomyopathy in Chinese Children:A domestic multicenter study

  • Online:2022-01-06 Published:2022-02-19

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 

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