TUBEROUS SCLEROSIS AND CARDIAC RHABDOMYOMA

Tuberous sclerosis complex is an autosomal-dominant disease with a hig h mutation rate, which affects the brain, skin, kidneys, heart, and ot her organs.(1) The heart may be affected by a type of hamartoma, the r habdomyoma, which is the most common cardiac tumor in infancy. Most re ported cases of rhabdomyoma are associated with tuberous sclerosis com plex.(2) Nearly 50% of infants with tuberous sclerosis complex are rep orted to have rhabdomyoma.(3,4) Our understanding of the natural histo ry of rhabdomyoma has changed over the last few years. Autopsy studies showed poor prognosis,(5) whereas results of echocardiographic studie s were less ominous.(4,6) Recently, there have been a few reports of r egression and disappearance of these tumors; especially in infancy.(4) Moreover, Watson(7) reported a higher incidence of rhabdomyoma, and l arger tumors in children than in adults, suggesting regression of tumo rs. The purpose of this study was to determine the incidence and locat ion of cardiac tumors in children with tuberous sclerosis complex as w ell 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.