Document Detail

Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy.
MedLine Citation:
PMID:  19907874     Owner:  NLM     Status:  MEDLINE    
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.
J T L Choo; T H Tan; A H M Lai; K Y Wong
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Singapore medical journal     Volume:  50     ISSN:  0037-5675     ISO Abbreviation:  Singapore Med J     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-11-12     Completed Date:  2010-02-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0404516     Medline TA:  Singapore Med J     Country:  Singapore    
Other Details:
Languages:  eng     Pagination:  e353-7     Citation Subset:  IM    
Cardiology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore.
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MeSH Terms
Anti-Arrhythmia Agents / therapeutic use
Aortic Aneurysm / diagnosis,  drug therapy
Echocardiography / methods
Infant, Newborn
Loeys-Dietz Syndrome / diagnosis*,  drug therapy
Losartan / therapeutic use
Marfan Syndrome / diagnosis*,  drug therapy
Time Factors
Transforming Growth Factor beta / metabolism
Reg. No./Substance:
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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