| Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy. | |
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MedLine Citation:
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PMID: 19907874 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Loeys-Dietz syndrome is a recently-characterised genetic disorder with an autosomal-dominant inheritance due to mutations in the transforming growth factor beta-receptor Type 1 or Type 2 genes. We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, cleft palate, hypertelorism, and an early dilatation of the aortic root and ascending aorta. This syndrome is associated with an aggressive arteriopathy, with an increased risk of dissection and rupture. Early diagnosis, close monitoring and early surgery may prolong the life in affected individuals. Losartan is an emerging therapy that may help slow down the rate of arterial dilatation. |
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Authors:
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J T L Choo; T H Tan; A H M Lai; K Y Wong |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Singapore medical journal Volume: 50 ISSN: 0037-5675 ISO Abbreviation: Singapore Med J Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-11-12 Completed Date: 2010-02-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0404516 Medline TA: Singapore Med J Country: Singapore |
Other Details:
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Languages: eng Pagination: e353-7 Citation Subset: IM |
Affiliation:
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Cardiology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore. chooseml@yahoo.com.sg |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anti-Arrhythmia Agents
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therapeutic use Aortic Aneurysm / diagnosis, drug therapy Echocardiography / methods Female Humans Infant, Newborn Loeys-Dietz Syndrome / diagnosis*, drug therapy Losartan / therapeutic use Marfan Syndrome / diagnosis*, drug therapy Risk Time Factors Transforming Growth Factor beta / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Anti-Arrhythmia Agents; 0/Transforming Growth Factor beta; 114798-26-4/Losartan |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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