ABSTRACT
Little is known about the intrauterine course of tuberous sclerosis (TS) and the fetal
age at which specific abnormalities may be detected. A case of neonatal TS diagnosed
prenatally by the echocardiographic finding of a cardiac rhabdomyoma is presented.
Literature review revealed that 50% of prenatally diagnosed rhabdomyomas are asymptomatic.
Although cardiac rhabdomyomas tend to regress during the first year of life, they
may for months be the only manifestation of TS. The number of new mutations may have
been overestimated. The combination of computed tomography, echocardiography, and
renal sonograms allows for the detection of other family members with latent TS. The
incidence of TS in cases of cardiac rhabdomyomas is probably higher than previously
reported.
