胎儿心脏横纹肌瘤的超声诊断及直系亲属临床特征分析

发布时间：2018-04-19 19:21

本文选题：胎儿横纹肌瘤 + 结节性硬化症　；参考：《心肺血管病杂志》2016年08期

【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。
[Abstract]:Objective: to evaluate the clinical value of fetal echocardiography in prenatal diagnosis of cardiac rhabdomyoma and its prognostic value. Methods: from 2007 to 2014, the echocardiographic features of 9 fetuses diagnosed as transverse striatum leiomyoma were analyzed retrospectively. The location, number and size of cardiac tumors were detected by two-dimensional and Doppler ultrasound. Morphological and hemodynamic changes were recorded, family history and clinical features were recorded. Results: fetal cardiac tumors were detected (including 9 cases of fetal cardiac rhabdomyoma, 1 case was followed up from 31 weeks of gestation to 37 months after birth), and 1 case was confirmed as cardiac and pericardial multiple transverse leiomyoma by pathology. The father had nodular sclerosis symptoms and signs in 4 cases of immediate relatives and 3 cases with no family history of nodular sclerosis. Echocardiography showed that the flow velocity was increased in 2 cases due to outflow tract obstruction in 2 cases. Conclusion: cardiac rhabdomyoma is the first important sign of tuberous sclerosis. Attention should be paid to the related symptoms of immediate relatives, which is the basis for prenatal diagnosis of cardiac rhabdomyoma.
【作者单位】：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;首都医科大学宣武医院超声科;
【分类号】：R714.5;R540.45

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