TUBEROUS SCLEROSIS AND CARDIAC RHABDOMYOMA

Tuberous sclerosis complex is an autosomal-dominant disease with a high mutation rate, which affects the brain, skin, kidneys, heart, and other organs.(1) The heart may be affected by a type of hamartoma, the rhabdomyoma, which is the most common cardiac tumor in infancy. Most reported cases of rhabdomyoma are associated with tuberous sclerosis complex.(2) Nearly 50% of infants with tuberous sclerosis complex are reported to have rhabdomyoma.(3,4) Our understanding of the natural history of rhabdomyoma has changed over the last few years. Autopsy studies showed poor prognosis,(5) whereas results of echocardiographic studies were less ominous.(4,6) Recently, there have been a few reports of regression and disappearance of these tumors; especially in infancy.(4) Moreover, Watson(7) reported a higher incidence of rhabdomyoma, and larger tumors in children than in adults, suggesting regression of tumors. The purpose of this study was to determine the incidence and location of cardiac tumors in children with tuberous sclerosis complex as well as their associated morbidity and mortality. To better understand the natural history of these tumors, a subgroup of 26 patients who had >1 echocardiogram was studied for determination of tumor regression.