Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature

Am J Perinatol. 2005 Feb;22(2):103-8. doi: 10.1055/s-2005-861572.


Tuberous sclerosis complex (TSC) is an autosomal-dominant phakomatosis that can result in cardiac and central nervous system lesions and may adversely impact fetal and maternal health. We report a case of a 19-year-old primagravida with TSC whose pregnancy was complicated by preeclampsia, preterm labor, and fetal demise. The fetus, also affected with TSC, was diagnosed with a cardiac rhabdomyoma on ultrasound at 24 gestational weeks and intracranial tubers on fetal magnetic resonance imaging at 26 gestational weeks. Hydrops fetalis developed in the 30th gestational week. Fetal demise occurred during induction of labor. A systematic review of the medical literature was conducted. Our objective was to quantify maternal and fetal morbidity and mortality associated with TSC. We identified 36 additional cases of fetal TSC with cardiac rhabdomyoma diagnosed prenatally. Including our case, we also identified 23 pregnancies (17 mothers) complicated by maternal TSC. Rates of complications are calculated. We conclude that pregnancies complicated by maternal or fetal TSC deserve careful vigilance. Although benign histologically, cardiac rhabdomyomas can result in fetal morbidity and mortality.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Adult
  • Echocardiography
  • Fatal Outcome
  • Female
  • Fetal Death
  • Fetal Diseases / diagnosis*
  • Heart Neoplasms / diagnosis*
  • Heart Neoplasms / embryology
  • Humans
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / embryology
  • Obstetric Labor, Premature
  • Pre-Eclampsia
  • Pregnancy
  • Pregnancy Complications*
  • Pregnancy Outcome
  • Rhabdomyoma / diagnosis*
  • Rhabdomyoma / embryology
  • Tuberous Sclerosis / diagnosis*
  • Ultrasonography, Prenatal