胎儿心脏横纹肌瘤的产前超声诊断与系统化评估  

Prenatal Sonographic Diagnosis and Systematic Evaluation of Cardiac Rhabdomyoma

作　　者：欧阳云淑[1] 张一休[1] 孟华[1] 武玺宁[1] 姜玉新[1] 戴晴[1] 戚庆炜[2] 赵大春[3] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院超声诊断,北京100730 [2]中国医学科学院北京协和医学院北京协和医院妇产科,北京100730 [3]中国医学科学院北京协和医学院北京协和医院病理科,北京100730

出　　处：《中国医学科学院学报》2018年第1期72-77,共6页Acta Academiae Medicinae Sinicae

基　　金：十二五科技支撑计划项目(2014BAI06B05)~~

摘　　要：目的探讨胎儿心脏横纹肌瘤的产前超声诊断及遗传咨询要点。方法回顾性总结2006年8月至2017年1月在北京协和医院经超声诊断的4例胎儿心脏横纹肌瘤病例的系统超声表现,并结合家族史、其他影像学检查、遗传学及病理检查结果进行分析。结果所有4例胎儿在超声检查时均显示心脏占位性病变,2例为单发实性占位,2例为多发实性占位。2例临床诊断结节性硬化症,其中1例合并肾脏囊性病变,MRI检查无异常发现;1例合并颅内结节并被MRI证实。2例未发现其他系统病变。1例胎儿的直系亲属罹患结节性硬化症,其余3例无明确家族史。经产前咨询后全部病例均选择引产,3例行病理检查并显示典型的心脏横纹肌瘤,1例镜下见多发肾囊肿,1例见多发皮肤结节。结论胎儿心脏横纹肌瘤具有典型的超声表现,在可疑病例中进行有针对性的多系统筛查和家族史搜集,有助于早期发现结节性硬化症的相关表现,条件许可时应行相关遗传学检查以获得明确诊断。Objective To investigate the sonographic diagnosis and genetic counseling of fetal cardiac rhabdomyoma.Methods Four cases of fetal cardiac rhabdomyoma diagnosed at Peking Union Medical College Hospital from August 2016 to January 2017 were enrolled in this retrospective study.The results of ultrasound,other image modalities,genetic testing,and pregnancy outcomes were analyzed.Results In all fetuses echogenic solid masses were observed in the ventricles,which were single in 2 cases and multiple in the other two cases.In two fetuses no extracardiac anomalies were identified,and in another two tuberous sclerosis was diagnosed based on the clinical features including renal cyst in one case and intracranial tubers on ultrasound and MRI in another case.There was negative family history for genetic diseases in all cases except one.After counseling,all parents opted for pregnancy termination.Autopsy was performed in 3 cases,in whom characteristic cardiac rhabdomyomas were found in left ventricle.Microscopic examination of one case showed cysts arising from tubules in both kidneys.In another case mutilple tubers were observed on the trunk.Conclusions Cardiac rhabdomyomasare characteristic on prenatal ultrasound.Targeted screening based on ultrasound and family history are helpful for the early diagnosis of tuberous sclerosis.Genetic testing should be considered in suspected cases.

关 键 词：胎儿 心脏肿瘤 横纹肌瘤 结节性硬化症 超声检查 产前 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]