Literature DB >> 23272854

Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome.

Thomas Martens1, Isabelle Van Herzeele, Frederic De Ryck, Marjolijn Renard, Anne De Paepe, Katrien François, Frank Vermassen, Julie De Backer.   

Abstract

The aneurysms-osteoarthritis syndrome (AOS) was recently described and encompasses multiple aneurysms and tortuosity of the great arteries. Most patients have early-onset osteoarthritis. We report the diagnosis, treatment, and follow-up of a patient presenting with bilateral aneurysms of the common iliac arteries and an ascending aortic aneurysm. After proper surgical treatment, genetic studies revealed a causal mutation in the SMAD3 gene.
Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 23272854     DOI： 10.1016/j.athoracsur.2012.05.085

Source DB:  PubMed          Journal:  Ann Thorac Surg        ISSN： 0003-4975            Impact factor:   4.330


  6 in total

Review 1.  Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Authors:  Josephina A N Meester; Aline Verstraeten; Dorien Schepers; Maaike Alaerts; Lut Van Laer; Bart L Loeys
Journal:  Ann Cardiothorac Surg       Date:  2017-11

2.  TGF-β signaling and the development of osteoarthritis.

Authors:  Jie Shen; Shan Li; Di Chen
Journal:  Bone Res       Date:  2014       Impact factor: 13.567

3.  A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Authors:  Wenwen Zhang; Min Zhou; Cheng Liu; Chen Liu; Tong Qiao; Dian Huang; Feng Ran; Wei Wang; Changjian Liu; Zhao Liu
Journal:  Biomed Res Int       Date:  2015-06-29       Impact factor: 3.411

Review 4.  Loeys-Dietz syndrome: a primer for diagnosis and management.

Authors:  Gretchen MacCarrick; James H Black; Sarah Bowdin; Ismail El-Hamamsy; Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Paul D Sponseller; Bart Loeys; Harry C Dietz
Journal:  Genet Med       Date:  2014-02-27       Impact factor: 8.822

5.  Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling.

Authors:  I van der Pluijm; N van Vliet; J H von der Thusen; J L Robertus; Y Ridwan; P M van Heijningen; B S van Thiel; M Vermeij; S E Hoeks; R M G B Buijs-Offerman; H J M Verhagen; R Kanaar; A M Bertoli-Avella; J Essers
Journal:  EBioMedicine       Date:  2016-09-10       Impact factor: 8.143

6.  A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Authors:  Dorien Schepers; Giada Tortora; Hiroko Morisaki; Gretchen MacCarrick; Mark Lindsay; David Liang; Sarju G Mehta; Jennifer Hague; Judith Verhagen; Ingrid van de Laar; Marja Wessels; Yvonne Detisch; Mieke van Haelst; Annette Baas; Klaske Lichtenbelt; Kees Braun; Denise van der Linde; Jolien Roos-Hesselink; George McGillivray; Josephina Meester; Isabelle Maystadt; Paul Coucke; Elie El-Khoury; Sandhya Parkash; Birgitte Diness; Lotte Risom; Ingrid Scurr; Yvonne Hilhorst-Hofstee; Takayuki Morisaki; Julie Richer; Julie Désir; Marlies Kempers; Andrea L Rideout; Gabrielle Horne; Chris Bennett; Elisa Rahikkala; Geert Vandeweyer; Maaike Alaerts; Aline Verstraeten; Hal Dietz; Lut Van Laer; Bart Loeys
Journal:  Hum Mutat       Date:  2018-03-06       Impact factor: 4.878
  6 in total

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