超声联合遗传学检查在胎儿心脏横纹肌瘤中的临床应用  

Clinical application value of echocardiography combined with genetic testing in fetal cardiac rhabdomyoma

作　　者：刘晓伟[1] 谷孝艳[1] 郝晓艳[1] 商建峰[2] 韩玲[3] 何怡华[1] 

机构地区：[1]首都医科大学附属北京安贞医院超声科二部,100029 [2]首都医科大学附属北京安贞医院病理科,100029 [3]首都医科大学附属北京安贞医院小儿心脏科,100029

出　　处：《中华妇产科杂志》2016年第6期415-419,共5页Chinese Journal of Obstetrics and Gynecology

基　　金：国家科技支撑计划（2014BA108800）

摘　　要：目的：探讨超声联合遗传学检查在胎儿心脏横纹肌瘤中的临床应用价值。方法2011年1月—2015年10月在首都医科大学附属北京安贞医院通过胎儿超声心动图检查初步诊断为心脏横纹肌瘤的胎儿33例，追踪随访其后续相关检查和妊娠结局，结合病理和遗传学检查结果，回顾性分析胎儿期心脏横纹肌瘤的遗传学发病特点。结果33例超声心动图检查初步诊断为心脏横纹肌瘤的胎儿中，24例终止妊娠，4例分娩，5例失访。其中，具备完善的引产后病理检查和遗传学检查结果的胎儿共8例。病理检查：8例胎儿的心脏肿瘤均表现为典型的横纹肌瘤特征。镜下观察，肿瘤组织由形态不规则的、肿胀的心肌细胞构成，细胞质呈空泡状，为特征性“蜘蛛样细胞”。遗传学检查：7例检测到结节性硬化症（TSC）基因突变，1例未检测到TSC基因异常。7例TSC基因突变胎儿中，6例为TSC2基因突变，1例为TSC1基因突变；5例胎儿有家系基因检查，其中3例为母亲TSC基因突变遗传给胎儿（1例可追溯，为家系中3代遗传），2例为胎儿自身新发的TSC基因突变。结论产前心脏超声联合遗传学检查对心脏横纹肌瘤胎儿既可明确其有无TSC，也可明确TSC基因突变的来源，从而进一步指导围产期管理。Objective To investigate the clinical value of echocardiography combined with genetic testing in the fetal cardiac rhabdomyoma. Methods Thirty-three fetal cardiac rhabdomyoma cases diagnosed by fetal echocardiogram in Beijing Anzhen Hospital from Jan. 2011 to Oct. 2015 were enrolled in a retrospective analysis. The results of other examination and pregnancy outcomes of them were followed up, the genetic characteristics of cardiac rhabdomyoma were summarized on the basis of pathology and genetics examination results. Results The pregnancy outcomes：24 cases were terminated pregnancy, 4 cases were born and 5 cases were lost. The results of ultrasound, pathology and genetic examination were detailed in 8 cases. Pathological examination： the typical characteristics of cardiac rhabdomyoma were found in the 8 cases with cardiac rhabdomyoma. The tumor tissue was composed of irregular and swelling shape of cardiomyocytes, and the cytoplasm was vacuole like, which was characteristic of“spider like cells”through microscopic observation. The geneticdetection results： 7 cases had tuberous sclerosis complex （TSC） gene mutation, TSC gene abnormalities were not detected in 1 case. Among the 7 cases with TSC gene mutations, 6 cases were with TSC2 gene mutation and the other 1 case was with TSC1 gene mutation. The family gene was investigated in the 5 cases, which including 3 cases of TSC gene mutation in mother passed on to the fetus （1 case with family of three generations of genetic） and 2 cases of spontaneous TSC gene mutation in the fetus. Conclusions Prenatal echocardiography combined with genetic detection have important clinical significance, which not only can clear if cardiac rhabdomyomas were associated with TSC, but also can clear the TSC gene mutation source. So as to further guide the perinatal management.

关 键 词：心脏肿瘤 横纹肌瘤 超声心动描记术 超声检查 产前 系谱 围生期医护 

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