| Literature DB >> 23291812 |
Shehab Jabir1, Samir Al-Hyassat.
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2, which code for the proteins hamartin and tuberin, respectively. These proteins act as tumour-growth suppressors with mutations in their genes leading to multiple hamartomatous growths throughout the central nervous system, lungs, heart, kidneys, eyes and skin. There have been reports of patients with TSC having an increased incidence of cardiac neoplasms, especially rhabdomyomas. A much smaller proportion of TSC patients have also been reported to have either, angiomyolipomas or lipomas, the diagnosis in these cases being made via CT. We present the first case of an adult with TSC, where a histological diagnosis of cardiac lipoma was made and discuss its implications.Entities:
Mesh:
Year: 2013 PMID: 23291812 PMCID: PMC3603820 DOI: 10.1136/bcr-2012-007484
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X