胎儿心肌病的病因、产前超声诊断及临床特征  

Pathogenesis,prenatal diagnosis and clinical features of fetal cardiomyopathies

作　　者：王欣 刘晓伟[1] 郝晓艳[1] 韩建成[1] 孙海瑞 孙琳[1] 张烨[1] 谷孝艳[1] 赵映[1] 陈倬[1] 于绍梅 商建峰[3] 何怡华[1] Wang Xin;Liu Xiaowei;Hao Xiaoyan;Han Jiancheng;Sun Hairui;Sun Lin;Zhang Ye;Gu Xiaoyan;Zhao Ying;Chen Zhuo;Yu Shaomei;Shang Jianfeng;He Yihua(Echocardiography Medical Centre,Beijing Anzhen Hospital,Capital Medical University&Maternal-Fetal Medicine Center in Fetal Heart Disease,Beijing Anzhen Hospital,Beijing 100029,China;Department of Ultrasound,the Affiliated Hospital of Guizhou Medical University,Guiyang 550000,China;Department of Pathology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院心脏超声医学中心北京安贞医院胎儿心脏病母胎医学中心,北京100029 [2]贵州医科大学附属医院超声科,贵阳550000 [3]首都医科大学附属北京安贞医院病理科,北京100029

出　　处：《中华超声影像学杂志》2022年第5期379-385,共7页Chinese Journal of Ultrasonography

基　　金：国家自然科学基金(82170301,82100322);胎儿心脏病母胎医学研究北京重点实验室(BZ0308)。

摘　　要：目的总结胎儿心肌病(FCMs)的病因、临床及超声特征。方法回顾性总结北京安贞医院胎儿心脏病母胎医学中心2015年1月至2020年12月经胎儿超声心动图诊断的70例FCMs的临床、超声、病理资料和临床结局,并进行全外显子组及全基因组测序明确相关遗传学改变。结果原发性FCMs共55例(78.6%,55/70),包括39例心肌致密化不全(NVM)、10例扩张型心肌病(DCM)、5例肥厚型心肌病(HCM)和1例限制型心肌病(RCM)。继发性FCMs共15例(21.4%,15/70),病因包括母体抗Ro/La抗体阳性(7例DCM)、双胎输血综合征受血儿(2例DCM,2例HCM)、贫血(2例DCM)、母体糖尿病(1例HCM)及胎盘绒毛膜血管瘤(1例DCM)。最终9例胎儿出生,3例围产期死亡,58例因宫内治疗无效或确诊后直接引产。30例原发性FCMs进行遗传学检测,13例有遗传学改变(12例NVM,1例HCM)。结论原发性FCMs较继发性FCMs相对多见。胎儿NVM病因中遗传学改变所占比例较高,胎儿DCM及HCM可由原发性或由继发性病因导致。Objective To summarize the etiological mechanism,echocardiographic and clinical features of fetal cardiomyopathies(FCMs).Methods According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December,70 cases with FCMs were retrospectively reviewed,and the clinical,ultrasonic,pathological and clinical outcome data were collected.Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results Primary FCMs were diagnosed in 55 cases(78.6%,55/70),including 39 fetuses with non-compaction of the ventricular myocardium(NVM),10 with dilated cardiomyopathy(DCM),5 with hypertrophic cardiomyopathy(HCM),and 1 with restricted cardiomyopathy(RCM).Secondary FCMs were diagnosed in 15 cases(21.4%,15/70),including 7 fetuses with maternal anti-Ro/La antibodies(presenting with DCM),4 with twin-twin transfusion syndrome(2 with DCM and 2 with HCM),2 with fetal anemia(presenting with DCM),1 with maternal diabetes(presenting with HCM)and 1 with chorioangioma of the placenta(presenting with DCM).In all cases,9 cases were born,3 cases died in perinatal period,and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women.Thirty cases with primary FCMs were performed with genetic tests,and 13 of them were identified with positive genetic changes related to FCMs,including 12 cases with NVM and 1 with HCM.Conclusions Primary FCMs are more common than secondary FCMs in fetal period.The genetic disorders have a high proportion in fetal NVM.Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.

关 键 词：超声心动描记术 胎儿 心肌病 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]