title: A case of near total aortic replacement in an adolescent with loeys-dietz syndrome.
abstract: Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ßR 2 gene.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Yoon Jung
authors.initials: YJ
authors.lastname: Suh
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Kwon
authors.forename: Gi Beom
authors.initials: GB
authors.lastname: Kim
authors.forename: Bo Sang
authors.initials: BS
authors.lastname: Kwon
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.forename: Chung Il
authors.initials: CI
authors.lastname: Noh
authors.forename: Jung Yun
authors.initials: JY
authors.lastname: Choi
authors.forename: Kyung Hwan
authors.initials: KH
authors.lastname: Kim
authors.forename: Yong Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park