Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex

Ultrasound Obstet Gynecol. 2009 Aug;34(2):155-9. doi: 10.1002/uog.6367.


Objectives: To determine the prevalence of specific cerebral lesions of tuberous sclerosis complex (TSC) and neurological outcome in cases diagnosed prenatally with cardiac rhabdomyomas.

Methods: We reviewed all fetuses diagnosed prenatally with cardiac rhabdomyomas which had undergone detailed ultrasound evaluation and cerebral magnetic resonance imaging (MRI) and which were recorded in the database of a single institution covering the period January 1992 to December 2005.

Results: Fifty-one fetuses were included in the study. MRI was performed at a mean +/- SD gestational age of 30 +/- 3 gestational weeks and showed specific lesions of TSC in 49% of cases. Termination of pregnancy was chosen by the parents in 26 cases. Neurological development was studied in 20 cases, follow-up lasting 4.8 +/- 2.9 years. Neurodevelopmental events occurred during the follow-up period in 45% of cases. Neurological complications occurred in 67% of patients who had cerebral lesions at MRI and in 33% of patients with normal MRI results. There was no significant difference between the two groups of patients (P = 0.2).

Conclusion: In fetuses with cardiac rhabdomyomas detailed ultrasound examination and third-trimester cerebral MRI are able to diagnose most TSC cerebral lesions, but fail to determine neurological outcome.

MeSH terms

  • Adult
  • Female
  • Genetic Counseling
  • Gestational Age
  • Heart Neoplasms / diagnosis*
  • Heart Neoplasms / genetics
  • Humans
  • Incidence
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Pregnancy
  • Prenatal Diagnosis
  • Prognosis
  • Rhabdomyoma / diagnosis*
  • Rhabdomyoma / genetics
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / genetics
  • Ultrasonography, Prenatal
  • Young Adult