Cardiac rhabdomyoma: a clinicopathologic study

We studied the clinical and pathologic features of 17 cardiac rhabdomyomas from 13 males and four females whose ages ranged from birth to 9 yr (mean, 36 wk). Eleven were multiple, and tumors were found throughout the heart. Four patients had congenital heart disease, and three had tuberous sclerosis; of the ten sporadic cases, four were surgical resections. Three of the four patients with surgical resections survived postoperatively. Two patients presented with sudden cardiac death. Immunohistochemical stains on seven tumor revealed diffuse positivity for myoglobin, actin, desmin, and vimentin, with negative results for S-100 protein, similar to adjacent cardiac muscle. We conclude that cardiac rhabdomyomas can be sporadic, can be associated with tuberous sclerosis, or can be seen with other cardiac malformations. They usually present early in life with a variety of symptoms, including sudden death, and attempts at resection may be successful.