摘要
背景扩张型心肌病(DCM)是儿童心源性猝死和心力衰竭的常见原因之一,不同病因与DCM患儿的预后显著相关。其中原发性DCM的占比最高且预后相对较差,特别是与遗传因素相关的患儿预后更差。因此基于遗传背景下的死亡危险因素分析将有利于DCM患儿的精准预后评估及危险分层。目的探讨儿童原发性DCM的遗传病因占比、遗传学特征及死亡危险因素。方法回顾性纳入2018年7月—2022年12月在河北省儿童医院住院治疗并完成基因检测的42例原发性DCM患儿的临床资料,收集患儿的基因检测结果。出院后定期于河北省儿童医院心内科门诊随访。以患儿死亡时间或2022-12-31为随访终点,根据随访结局将患儿分为死亡组(9例)与存活组(33例)。采用Kaplan-Meier法绘制患儿的生存曲线,生存曲线比较采用Log-rank检验。采用多因素COX比例风险模型分析患儿死亡的危险因素。结果患儿中位首诊年龄12(7,96)个月,中位随访时间24(9,36)个月。死亡组患儿中位随访时间8(0,11)个月,存活组中位随访时间30(12,39)个月,差异有统计学意义(Z=-2.19,P<0.05)。死亡组患儿男性、心功能分级Ⅲ/Ⅳ级、基因突变阳性占比高于生存组,左心室短轴缩短率(LVFS)低于生存组(P<0.05)。患儿基因突变阳性率为38.1%(16/42),其中自发突变占25.0%(4/16),基因突变阴性为61.9%(26/42)。死亡组9例患儿均在诊断后1年内死亡。基因突变阳性患儿死亡8例(50.0%,8/16),基因突变阴性患儿死亡1例(3.8%,1/26),组间死亡率差异有统计学意义(P<0.05)。基因突变阴性死亡患儿CSRP3(c.190C>T)杂合变异,致病分类为临床意义未明。绘制患儿Kaplan-Meier生存曲线,Log-rank检验结果显示基因突变阴性患儿生存率高于基因突变阳性患儿(χ^(2)=18.1,P<0.001)。多因素COX比例风险模型分析结果显示基因突变[HR=23.91,95%CI=(1.80~317.21),P=0.016]、心功能分级Ⅲ/Ⅳ级[HR=11.29,95%CI(1.13~112.68),P=
Background Dilated cardiomyopathy(DCM)is a common cause of sudden cardiac death and heart failure in children,its different etiologies are significantly associated with the prognosis of children with DCM.However,there is a lack of accurate etiologic diagnosis and effective risk stratification programs.Primary DCM has the highest prevalence and relatively poor prognosis,especially in children with genetic factors.Therefore,the analysis of mortality risk factors based on genetic background would be beneficial for the accurate prognosis and risk stratification of children with DCM.Objective To explore the proportion of genetic etiology,genetic characteristics and factors related to poor prognosis of primary DCM in children.Methods The clinical data and genetic testing results of 42 children with primary DCM who were hospitalized in Hebei Children's Hospital from July 2018 to December 2022 and completed genetic testing were retrospectively collected,and the included children were regularly followed up in the cardiology outpatient department of Hebei Children's Hospital after discharge.With the time of death or 2022-12-31 as the end point of follow-up,the children were divided into the death group(9 cases)and survival group(33 cases)according to the follow-up outcomes.Survival curves of the children were plotted using the Kaplan-Meier method,and comparisons between groups were performed using the Log-rank test.Multivariate COX proportional risk model was used to analyze the risk factors for death.Results The median age of first diagnosis was 12(7,96)months,and the median follow-up time was 24(9,36)months.The median follow-up time was 8(0,11)months in the death group and 30(12,39)months in the survival group,the difference was statistically significant(Z=-2.19,P<0.05).The proportion of male,heart function gradeⅢ/Ⅳand gene mutation positive in the death group was higher than that in the survival group,and the left ventricular short axis shortening rate(LVFS)was lower than that in the survival group(P<0.05).The posit
作者
郑奎
刘露
王永丽
李会
王璇
李博
郝京霞
张英谦
ZHENG Kui;LIU Lu;WANG Yongli;LI Hui;WANG Xuan;LI Bo;HAO Jingxia;ZHANG Yingqian(Department of Cardiology,Hebei Children's Hospital/Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease,Shijiazhuang 050031,China;Graduate School of Hebei Medical University,Shijiazhuang 050017,China;Graduate School of Hebei North University,Zhangjiakou 075132,China)
出处
《中国全科医学》
北大核心
2024年第6期679-684,共6页
Chinese General Practice
基金
河北省医学科学研究课题(20231120)
关键词
扩张型心肌病
基因突变
儿童
基因检测
预后
影响因素分析
Dilated cardiomyopathies
Genic mutation
Child
Genetic testing
Prognosis
Root cause analysis
