ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition, with an estimated incidence at birth of approximately 1 in 6000. It is considered a multisystem disorder that can cause circumscribed, benign, noninvasive lesions called hamartomas in virtually any organ of the body, most commonly in the brain, kidney, heart, and skin, with variable clinical presentation and severity. TSC was described for the time by von Recklinghausen in 1862, after autopsy examination of a stillborn with multiple cardiac and brain tumors. The phenotype is highly variable, as disease manifestations in different organ systems can differ widely, even between closely related individuals. TSC is a very heterogeneous disease: the random distribution, number, size, and location of lesions cause several clinical manifestations, with considerable variation between and within families. Cardiac rhabdomyomas are benign tumors of the heart, highly specific of TSC, and are the earliest detectable hamartomas in this disease.
