Tuberous Sclerosis and Cardiac Rhabdomyomas: A Case Report and Review of the Literature

Tuberous sclerosis (TS) is an autosomal dominant disorder characterized by benign hamartomas in multiple organ systems, including rhabdomyomas in the heart and subependymal giant cell astrocytomas in the brain. Mutations in the hamartin (TSC1) and tuberin (TSC2) genes have been identified as causative. We report an infant who presented with seizures and cardiac rhabomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. In addition, we review the literature of cardiac tumors. Despite the typical natural history of tumor regression, lifelong follow-up is necessary for the appropriate management of these patients. Elucidation of the genetics and pathogenesis of cardiac tumors, as illustrated by the TS rhabdomyoma described in this case, may lead to novel therapies.