Document Detail


Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.
MedLine Citation:
PMID:  22325833     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Loeys-Dietz syndrome (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of hypertelorism, bifid uvula or cleft palate, arterial tortuosity and aortic aneurysms. These phenotypic characteristics distinguish LDS from other connective tissue disorders related to transforming growth factor beta-receptor. Patients with LDS have a high risk of aortic dissection or rupture at a younger age and smaller aortic diameters. So, clinical suspicion of LDS followed by genotyping is important to prevent aortic dissection, leading cause of death, by surgical treatment.
Authors:
Bong Oh Ma; Bong Gun Song; Hae Jin Yang; Gi Jung Jeon; Jae Un Lee; Tae Hun Kim; Gu Hyun Kang; Yong Hwan Park; Woo Jung Chun; Ju Hyun Oh
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-2-8
Journal Detail:
Title:  Heart, lung & circulation     Volume:  -     ISSN:  1444-2892     ISO Abbreviation:  -     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-2-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100963739     Medline TA:  Heart Lung Circ     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Australasian Society of Cardiac and Thoracic Surgeons and the Cardiac Society of Australia and New Zealand. Published by Elsevier B.V. All rights reserved.
Affiliation:
Division of Cardiology, Cardiac and Vascular Center, Department of Medicine, Sungkyunkwan University Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon-Si, Republic of Korea.
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