Sudden death in a 15-year-old with diffuse cardiac rhabdomyomatosis: an autopsy case report

A 15-year-old African–American female with a 4-month history of sporadic rapid heartbeat and fatigue was found pulseless and apneic in her residence. At autopsy, patchy scarring was diffuse throughout the circumference of the left ventricle of the heart. Microscopically, the myocardium had diffuse infiltration of rhabdomyoma-like cells with significant associated fibrosis. Unlike cardiac rhabdomyoma, there was no discrete tumor mass. Differential diagnoses considered were congenital cardiac rhabdomyoma with partial regression, cardiac fibroma, histiocytoid cardiomyopathy, glycogen storage diseases, and drug-induced vacuolar cardiomyopathy. However, the findings are most consistent with cardiac rhabdomyomatosis, an entity not well described in the literature.