Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature

✍ Scribed by Martin Krapp; Ahmet A. Baschat; Ulrich Gembruch; Katharina Gloeckner; Eberhard Schwinger; Erich Reusche

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 213 KB
• Volume: 19
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199907)19:7<610::aid-pd596>3.0.co;2-q

✦ Synopsis

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.