Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis

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.