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http://dx.doi.org/10.4070/kcj.2012.42.4.288

A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome  

Suh, Yoon-Jung (Department of Pediatrics, Seoul National University Children's Hospital)
Kwon, Hye-Won (Department of Pediatrics, Seoul National University Children's Hospital)
Kim, Gi-Beom (Department of Pediatrics, Seoul National University Children's Hospital)
Kwon, Bo-Sang (Department of Pediatrics, Seoul National University Children's Hospital)
Bae, Eun-Jung (Department of Pediatrics, Seoul National University Children's Hospital)
Noh, Chung-Il (Department of Pediatrics, Seoul National University Children's Hospital)
Choi, Jung-Yun (Department of Pediatrics, Seoul National University Children's Hospital)
Kim, Kyung-Hwan (Department of Thoracic and Cardiovascular Surgery Seoul National University Children's Hospital)
Kim, Yong-Jin (Department of Thoracic and Cardiovascular Surgery Seoul National University Children's Hospital)
Park, Sung-Sup (Department of Laboratory Medicine, Seoul National University Children's Hospital)
Publication Information
Korean Circulation Journal / v.42, no.4, 2012 , pp. 288-291 More about this Journal
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-${\beta}R$ 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-${\beta}R$ 2 gene.
Keywords
Loeys-Dietz syndrome; Aortic aneurysm; Craniofacial abnormalities; Transforming growth factor-beta type II receptor;
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