Prenatal Sonographic Diagnosis and Systematic Evaluation of Cardiac Rhabdomyoma
10.3881/j.issn.1000-503X.2018.01.011
- VernacularTitle:胎儿心脏横纹肌瘤的产前超声诊断与系统化评估
- Author:
Yunshu OUYANG
1
;
Yixiu ZHANG
;
Hua MENG
;
Xining WU
;
Yuxin JIANG
;
Qing DAI
;
Qingwei QI
;
Dachun ZHAO
Author Information
1. 中国医学科学院北京协和医学院北京协和医院超声诊断科
- Keywords:
fetus;
cardiac tumor;
rhabdomyoma;
tuberous sclerosis;
ultrasonography;
prenatal
- From:
Acta Academiae Medicinae Sinicae
2018;40(1):72-77
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the sonographic diagnosis and genetic counseling of fetal cardiac rhabdomyoma.Methods Four cases of fetal cardiac rhabdomyoma diagnosed at Peking Union Medical College Hospital from August 2016 to January 2017 were enrolled in this retrospective study.The results of ultrasound,other image modalities,genetic testing,and pregnancy outcomes were analyzed.Results In all fetuses echogenic solid masses were observed in the ventricles,which were single in 2 cases and multiple in the other two cases.In two fetuses no extracardiac anomalies were identified,and in another two tuberous sclerosis was diagnosed based on the clinical features including renal cyst in one case and intracranial tubers on ultrasound and MRI in another case.There was negative family history for genetic diseases in all cases except one.After counseling,all parents opted for pregnancy termination.Autopsy was performed in 3 cases,in whom characteristic cardiac rhabdomyomas were found in left ventricle.Microscopic examination of one case showed cysts arising from tubules in both kidneys.In another case mutilple tubers were observed on the trunk.Conclusions Cardiac rhabdomyomas are characteristic on prenatal ultrasound.Targeted screening based on ultrasound and family history are helpful for the early diagnosis of tuberous sclerosis.Genetic testing should be considered in suspected cases.
