A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome.
10.4070/kcj.2012.42.4.288
- Author:
Yoon Jung SUH
1
;
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
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. ped9526@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Loeys-Dietz syndrome;
Aortic aneurysm;
Craniofacial abnormalities;
Transforming growth factor-beta type II receptor
- MeSH:
Adolescent;
Aorta, Thoracic;
Aortic Aneurysm;
Aortic Valve;
Craniofacial Abnormalities;
Humans;
Loeys-Dietz Syndrome;
Musculoskeletal Abnormalities;
Protein-Serine-Threonine Kinases;
Receptors, Transforming Growth Factor beta
- From:Korean Circulation Journal
2012;42(4):288-291
- CountryRepublic of Korea
- Language:English
-
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.
