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: Yoon Jung Suh, Hye Won Kwon, Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh, Jung Yun Choi, Kyung Hwan Kim, Yong Jin Kim, Sung Sup Park
• Journal: Korean circulation journal (Korean Circ J) Vol. 42 Issue 4 Pg. 288-91 (Apr 2012) ISSN: 1738-5555 [Electronic] Korea (South)
• PMID: 22563345 (Publication Type: Journal Article)