title: Tuberous sclerosis and cardiac rhabdomyomas: a case report and review of the literature.
abstract: 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 rhabdomyomas 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.
authors.affiliation: The Heart Institute, Cincinnati Children's Hospital Medical Centerl, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.
authors.forename: Peace
authors.initials: P
authors.lastname: Madueme
authors.forename: Robert
authors.initials: R
authors.lastname: Hinton
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005820:Genetic Testing / Q000379:methods; D006338:Heart Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D012207:Rhabdomyoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins