|
KMID : 0368120120420040288
|
|
Korean Circulation Journal
2012 Volume.42 No. 4 p.288 ~ p.291
|
|
|
A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
|
|
Suh Yoon-Jung
Kwon Hye-Won
Kim Gi-Beom
Kwon Bo-Sang
Bae Eun-Jung
Noh Chung-Il
Choi Jung-Yun
Kim Kyung-Hwan
Kim Yong-Jin
Park Sung-Sup
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Loeys-Dietz syndrome, Aortic aneurysm, Craniofacial abnormalities, Transforming growth factor-beta type II receptor
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
   
|