Prenatal diagnosis and postnatal prognosis of fetal cardiac rhabdomyoma

DU Yan; REN Yunyun; YAN Yingliu; HE Mulan; CAO Li

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Prenatal diagnosis and postnatal prognosis of fetal cardiac rhabdomyoma

更新时间：2025-12-15

- Prenatal diagnosis and postnatal prognosis of fetal cardiac rhabdomyoma
- Vol. 26, Issue 3, Pages: 211-216(2017)
- 作者机构：
  
  1. 复旦大学附属妇产科医院临床流行病学研究室,上海,200011
  2. 复旦大学附属妇产科医院超声科,上海,200011
  3. 复旦大学附属妇产科医院产科,上海,200011
- 作者简介：
- 基金信息：
- DOI：
  CLC：
- Published Online：14 August 2017，
  
  Published：14 August 2017
- 稿件说明：
移动端阅览
杜琰,任芸芸,严英榴,等. 胎儿心脏横纹肌瘤的产前诊断及预后[J]. 肿瘤影像学, 2017, 26(3): 211-216
DOI：

杜琰,任芸芸,严英榴,等. 胎儿心脏横纹肌瘤的产前诊断及预后[J]. 肿瘤影像学, 2017, 26(3): 211-216 DOI：

摘要

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

TSC

1或

TSC

2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。

Abstract

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 MRI 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 local

ized in the left or right ventricles. Five of the 33 CR cases had abnormal cardiac function. Prenatal or postnatal MRI 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

TSC

1 or

TSC

2 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 of perinatal period and guidance of prognosis.

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