胎儿心脏横纹肌瘤的超声诊断及其与结节性硬化症的关系分析  

Fetal Cardiac Rhabdomyoma Diagnosed by Ultrasonography and Its Relation with Tuberous Sclerosis

作　　者：刘贤香 魏卓君 陈程 孙婷婷 王晓玲 赵旭亮 田瑞霞 Liu Xianxiang;Wei Zhuojun;Chen Cheng;Sun Tingting;Wang Xiaoling;Zhao Xuliang;Tian Ruixia(hospital of Integrated Logistic Guarantee Force,Hefei Anhui 230031,China)

机构地区：[1]中国人民解放军联勤保障部队第九〇一医院,安徽合肥230031

出　　处：《现代科学仪器》2024年第5期88-93,共6页Modern Scientific Instruments

摘　　要：目的:分析胎儿心脏横纹肌瘤(CR)的超声特征及其与结节性硬化症(TSC)的关系,探讨CR胎儿基因检测的价值。方法:回顾性分析经产前超声诊断为CR的9例胎儿超声图像及临床资料。结果:9例胎儿均发现心脏占位性病变,1例为单发结节,8例为多发结节。结节分布于心房、心室及心室壁,表现为形态稳定、表面光滑、回声均匀的类圆形实性高回声,结节与心肌组织间界限不清,所有结节均未见血流信号。9例胎儿中,7例引产,其中4例病理证实为CR,2例基因检测证实TSC2基因突变。1例继续妊娠,1例失访。结论:胎儿CR具有典型的超声表现,CR胎儿多伴有TSC。TSC基因检测阳性可以明确胎儿是否为TSC。Objective:To analyze the ultrasound features of fetal cardiac rhabdomyoma(CR)and its relationship with tuberous sclerosis(TSC),and explore the value of genetic testing in CR fetuses.Method:A retrospective analysis was conducted on the ultrasound images and clinical data of 9 fetuses diagnosed with CR by prenatal ultrasound.Result:All 9 fetuses were found to have cardiac space occupying lesions,with 1 case having a single nodule and 8 cases having multiple nodules.Nodules are distributed in the atria,ventricles,and ventricular walls,presenting as round solid hyperechogenicity with stable morphology,smooth surface,and uniform echo.The boundary between the nodules and myocardial tissue is unclear,and no blood flow signal is observed in all nodules.Among the 9 fetuses,7 were induced,of which 4 were pathologically confirmed to be CR,and 2 were confirmed to have TSC2 gene mutations through genetic testing.1 case continued pregnancy and 1 case lost follow-up.Conclusion:Fetal CR has typical ultrasound manifestations,and CR fetuses are often accompanied by TSC.A positive TSC gene test can determine whether the fetus is TSC.

关 键 词：胎儿 心脏横纹肌瘤 结节性硬化症 产前超声 基因检测 

分 类 号：R445.1[医药卫生—影像医学与核医学]