Prenatal diagnosis of tuberous sclerosis through the detection of cardiac rhabdomyomas: a review from the literature

Tuberous sclerosis complex (TSC) is an autosomic dominant genetic disease frequently due to the mutation of the oncosuppressors genes TSC1 and TSC2. TSC results in different phenotypical and clinical aspects consisting in hamartomatous lesions, primarily involving the skin and the central nervous system and multiple rhabdomyomas, involving mainly heart chambers. The detection of multiple cardiac rhabdomyomas in prenatal age, through fetal ultrasonography performed at several gestation weeks, is often the only one manifestation of the TSC, providing to an early diagnosis for better comprehensive care for affected individuals.