胎儿心脏横纹肌瘤的产前诊断及预后

Prenatal diagnosis and postnatal prognosis of fetal cardiac rhabdomyoma

目的:探讨胎儿心脏横纹肌瘤(cardiac rhabdomyoma,CR)的产前超声特征及预后。方法:回顾性分析产前超声检出的胎儿心脏肿瘤影像学资料,结合产前和产后MRI及基因检测结果,观察胎儿CR的预后及其与结节性硬化症(tuberous sclerosis complex,TSC)的关系。结果:2008年1月—2016年10月产前超声共发现36例CR胎儿,其中失访3例。纳入研究的33例中,单发10例、多发23例,多位于左心室和右心室。5例合并胎儿心功能异常。产前或产后MRI共发现16例合并室管膜下或脑皮质结节样病灶,TSC发生率为48.5%(16/33)。对6例TSC患儿进行基因检测,发现5例TSC1或TSC2基因突变。14例自由分娩的TSC患儿心功能均正常,9例CR消失,9例频发或偶发癫癎,7例智力落后。结论:产前超声是检出胎儿心脏肿瘤的首选方法,结合胎儿颅脑MRI和遗传学检测可及时发现有无合并TSC,对围生期管理及预后指导具有重要意义。

Objective： To evaluate the features of prenatal ultrasound examination of cardiac rhabdomyoma （CR） and its prognosis. Methods： Imaging data of fetal cardiac tumors detected by prenatal ultrasound examinations, information of prenatal and postnatal fetal brain MR/results, and genetic test results were retrospectively analyzed to assess the prognosis of CR and its association with tuberous sclerosis complex （TSC）. Results： A total of 36 cases were detected by prenatal ultrasound examinations, including 3 cases lost to follow-up. For the 33 cases included in the analyses, 10 were single, and 23 were multiple. Most of the lesions were localized in the left or right ventricles. Five of the 33 CR cases had abnormal cardiac function. Prenatal or postnatal MR/ discovered 16 cases combined with subependymal or cortical nodule lesions. And the incidence rate of TSC was 48.5% （16/33）. Six cases of TSC underwent genetic tests, and TSCI or TSC2 gene mutations were reported in 5 of them. All 14 delivered TSC cases had normal cardiac function, CR in 9 cases disappeared, 9 cases had frequent or occasional seizures, and 7 cases had mental retardation or developmental delays. Conclusion： Prenatal ultrasound examination is the preferred method of detecting fetal cardiac tumors. In combination with brain MRI and genetic tests, prenatal ultrasound examination can be used to detect the coexistence of TSC. Therefore, prenatal ultrasound examination is of great significance in the management ofperinatal period and guidance of prognosis.