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

Martin Krapp, Ahmet A. Baschat, Ulrich Gembruch, Katharina Gloeckner, Eberhard Schwinger, Erich Reusche

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)610-613
Number of pages4
JournalPrenatal Diagnosis
Volume19
Issue number7
DOIs
StatePublished - 1999
Externally publishedYes

Keywords

  • Fetal echocardiography
  • Prenatal diagnosis
  • Rhabdomyoma
  • Trisomy 21
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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