Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.
OBJECTIVE
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.


METHODS
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 in most affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.
Bader
Rima S
RS
Department of Pediatrics, Division of Cardiology, Fetal Cardiac Program, the Hospital for Sick Children, Toronto, Ontario, Canada.
Chitayat
David
D
Kelly
Edmond
E
Ryan
Greg
G
Smallhorn
Jeffrey F
JF
Toi
Ants
A
Hornberger
Lisa K
LK
D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D002658:Developmental Disabilities / Q000453:epidemiology; D004453:Echoencephalography; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000453:epidemiology; D005500:Follow-Up Studies; D005865:Gestational Age; D006338:Heart Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012017:Referral and Consultation; D012207:Rhabdomyoma / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000453:epidemiology