Krapp M, Baschat A A, Gembruch U, Gloeckner K, Schwinger E, Reusche E
Division of Prenatal Medicine, Department of Obstetrics and Gynaecology, Medical University of Lübeck, Germany.
Prenat Diagn. 1999 Jul;19(7):610-3. doi: 10.1002/(sici)1097-0223(199907)19:7<610::aid-pd596>3.0.co;2-q.
A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21+2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.
在妊娠21+2周时，通过灰阶超声心动图诊断出一名胎儿有一个巨大的心脏横纹肌瘤凸向左心室。彩色和频谱多普勒超声心动图排除了左心室流出道梗阻。未发现其他异常，经脐带穿刺进行的核型分析显示为21三体（47，XY，+21）。终止妊娠后的尸检证实了产前心脏横纹肌瘤的诊断，此外还发现了胎儿结节性硬化症。产前超声显示心脏横纹肌瘤应引起对胎儿结节性硬化症存在的怀疑。尽管与非整倍体偶然相关，但建议进行胎儿核型分析以便为父母提供最佳咨询。
