胎儿心脏横纹肌瘤的产前诊断及临床结局分析

Prenatal diagnosis and clinical outcome analysis of fetal cardiac rhabdomyoma

摘要:

目的： 探讨胎儿心脏横纹肌瘤的产前超声诊断特点与临床结局。方法： 回顾性分析2016年8月至2019年8月重庆医科大学附属第一医院产前诊断的15例胎儿心脏横纹肌瘤超声特点，并随访其临床结局。结果： 15例胎儿心脏横纹肌瘤中，8例（53.3%）为单发，7例（46.7%）为多发，好发部位以左心室最为常见，产前超声均表现为均匀的强回声团。13例（86.7%）产前超声未发现合并畸形，1例产前超声合并室间隔缺损，1例产前超声合并脑实质内多发结节。妊娠结局：9例（60.0%）引产，5例（33.3%）足月分娩，1例失访。5例足月分娩患儿中，3例患儿心脏横纹肌瘤现仍存在，并未发现结节性硬化症（tuberous sclerosis complex，TSC）；1例心脏横纹肌瘤消失且未发现其他异常，1例出现多发TSC。结论： 胎儿心脏横纹肌瘤产前超声有较典型特征，表现为心腔内单发或多发的类圆形、均匀强回声团块，边界清晰，附着于室壁或室间隔。不合并TSC时预后良好，临床工作中需加强医患沟通，结合磁共振成像（magnetic resonance imaging，MRI）和基因检测来指导其预后。

Abstract:

Objective: To investigate the characteristics and clinical outcomes of prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma. Methods: The ultrasonographic characteristics and clinical outcomes of 15 fetuses with prenatal diagnosis of cardiac rhabdomyoma in our hospital from August 2016 to August 2019 were retrospectively analyzed. Results: In 15 fetuses with cardiac rhabdomyoma, 8 cases (53.3%) were single and 7 cases (46.7%) were multiple, with left ventricle as most common favorite site, and prenatal ultrasound showed uniform hyperechoic mass. The other structural malformation were not detected in 13 fetuses (86.7%), 1 case accompanied with ventricular septal defect and 1 case with multiple nodules in the brain parenchyma. Pregnancy outcome: 9 fetuses (60.0%) were terminated, 5 fetuses (33.3%) delivered at term, and 1 fetus lost follow-up. In the 5 full-term delivered fetuses, cardiac rhabdomyoma still presented in 3 cases, and tuberous sclerosis complex (TSC) were not found. Cardiac rhabdomyoma disappeared in 1 case and no other abnormalities were found, and TSC in many organs were found in 1 case. Conclusion: Prenatal ultrasound of fetal cardiac rhabdomyoma has typical features: single or multiple round-like, uniform echogenic masses in the heart cavity, well-demarcated, and attached to the ventricular wall or septum. The condition without TSC has good prognosis, and its prognosis can be guided by strengthening doctor-patient communication in clinical work, combined with magnetic resonance imaging (MRI) and genetic test.