胎儿心脏横纹肌瘤的超声诊断及直系亲属临床特征分析  

Analysis echocardiographyic Diagnosis rhabdomyoma during prenatal and postnatal Period and immediate family's clinical feature

作　　者：栾姝蓉[1] 任美杰[2] 张涵[1] 杨静[1] 牛宝荣[1] 马宁[1] 李嵘娟[1] 

机构地区：[1]首都医科大学附属北京安贞医院-北京市心肺血管病症研究所超声科,100029 [2]首都医科大学宣武医院超声科

出　　处：《心肺血管病杂志》2016年第8期632-635,共4页Journal of Cardiovascular and Pulmonary Diseases

摘　　要：目的:探讨胎儿超声心动图结合直系亲属患病特征,在产前诊断心脏横纹肌瘤并评估其预后的临床价值。方法:回顾性分析2007年至2014年,我科诊断为心脏横纹肌瘤的9例胎儿超声心动图特征,应用二维及多普勒超声探查心脏肿瘤发生部位、数目、大小、形态及相应血流动力学变化,同时记录家族相关病史及临床特征。结果:检出胎儿心脏肿瘤(考虑胎儿心脏横纹肌瘤)9例,1例自孕31周首检发现后随访至出生后37个月;8例选择终止妊娠,其中1例经病理证实为心脏及心包膜多发性横纹肌瘤,其父系有结节性硬化症症状和体征;4例直系亲属有结节性硬化症相关症状和体征;无结节性硬化症家族史者3例。超声心动图均显示为心腔内的中高回声团块,2例因流出道梗阻引起血流速度加快,1例伴有过缓。结论:心脏横纹肌瘤常是最早发现结节性硬化症的重要征象。重视直系亲属相关症状、体征是产前诊断心脏横纹肌瘤的有力依据。Objective： To evaluate echocardiography combine with clinical feature of immediate family in diagnosed rhabdomyoma during prenatal and postnatal period. Methods： Retrospective analysis was performed to summerized 9 fetal echocardiography characteristics of rhabdomyomad during 2007-2014 in our department. 2D echo and Doppler were used to display the position,number,size and morphology of tumor and evaluate the haemodynamic changes. The relative family history was recorded. Results： Totally 9 fetuses,s tumors were supposed to be rhabdomyoma,8 fetuses were induced labour,1 fetus was follow up from the first found of tumor（ G31 weeks） to 37 monthes old. 1 fetus confirmed by pathology is rhabdomyoma,and his father suffered by tuberous sclerosis complex（ TSC）. 4 fetuses,s immediate family had characteristic of TSC,3 fetuses had none. The mass with well defined and appear homogeneously hyperechoic in cardiac chambers manifested by echocardiography,the blood flow increased at the outflow in 2 cases,and bradycardia in 1 case. Conclusion： Tetal rhabdomyoma may be early presentation of TSC. To diagnose TSC Prenatally,the famity history is powerful evidence.

关 键 词：胎儿横纹肌瘤 结节性硬化症 产前超声心动图 

分 类 号：R54[医药卫生—心血管疾病]