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Cardiac Rhabdomyomas in Tuberous Sclerosis

Echocardiography was performed in 60 people with tuberous sclerosis (TSC) to ascertain the prevalence of cardiac rhabdomyomas at different ages. Twenty-five of 43 children, but only 3 of 17 adults, had tumors, the difference being highly significant. The number and absolute size of the tumors in those who had any were much the same throughout childhood, although the tumors in adults were smaller. Four cases of prenatal tumor recognition are also described; all four later showed signs of TSC, although none had tumors at birth. One of these four is already included in the series of 60, and one single tumor was removed surgically; in the other two the tumors regressed, as they did in the only three infants in the group of 60. The evidence presented herein, together with some published case reports, suggests that echocardiography may afford the most useful diagnostic test for TSC in early infancy and also that a conservative policy should be followed in the management of symptomatic tumors.