Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

Objectives: We reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. Study design: We reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. Results: Twenty fetuses with cardiac rhabdomyoma were diagnosed at 28.4 +/- 6.0 weeks' gestational age. Of 19 continued pregnancies, there was one spontaneous intrauterine death, and 18 were delivered at term. Although none had prenatal hemodynamic complications, after birth seven had cardiac symptoms requiring medical (n = 4) or surgical intervention (n = 3). On follow-up, 15 of 19 with available outcome had TSC (79%), including six with neurodevelopmental disease. Over the same period, 26 patients were diagnosed with cardiac rhabdomyoma postnatally. Most (77%) were referred for cardiac assessment after findings suggesting TSC. On follow-up, TSC was confirmed in 25 (96%), including 22 with neurodevelopmental disease. The incidence of cardiac symptoms and TSC was not statistically different between the prenatal and postnatal diagnosis groups. Conclusions Cardiac rhabdomyomas are benign from the cardiovascular standpoint inmost affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.