Literature DB >> 26264107

A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease.

K A Jones1, A M T L Choong, N Canham2, S Renton1, R Pollitt3, M Nesbitt3, D Kopcke4, L Islam5, J Buckley6, N Ghali, A Vandersteen.   

Abstract

We report two patients who presented with extensive aneurysmal disease, in association with minimal external physical signs. Patient 1 remained genetically undiagnosed despite multiple structural, biochemical and genetic investigations. He made a good recovery following surgery for popliteal and left axillary artery aneurysms. Patient 2 was diagnosed with vascular type Ehlers-Danlos syndrome, associated with a high degree of tissue and blood vessel fragility, and is being managed conservatively. Early multidisciplinary assessment of such patients facilitates accurate diagnosis and management.

Entities:  

Keywords:  Aneurysmosis; Ehlers–Danlos syndrome; Genetics; Loeys–Dietz syndrome; Marfan syndrome

Mesh:

Year:  2015        PMID: 26264107      PMCID: PMC5096559          DOI: 10.1308/003588415X14181254790121

Source DB:  PubMed          Journal:  Ann R Coll Surg Engl        ISSN: 0035-8843            Impact factor:   1.891


  13 in total

Review 1.  Mycotic aneurysms: a case report, clinical review and novel imaging strategy.

Authors:  M Fisk; L F Peck; K Miyagi; M J Steward; S F Lee; M B Macrae; S Morris-Jones; A I Zumla; D J B Marks
Journal:  QJM       Date:  2011-01-08

2.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

3.  Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Authors:  U Schwarze; W I Schievink; E Petty; M R Jaff; D Babovic-Vuksanovic; K J Cherry; M Pepin; P H Byers
Journal:  Am J Hum Genet       Date:  2001-09-27       Impact factor: 11.025

4.  Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Authors:  Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz
Journal:  N Engl J Med       Date:  2006-08-24       Impact factor: 91.245

5.  Three new families with arterial tortuosity syndrome.

Authors:  Marja W Wessels; Coriene E Catsman-Berrevoets; Grazia M S Mancini; Martijn H Breuning; Jeanette J M Hoogeboom; Hans Stroink; Ingrid Frohn-Mulder; Paul J Coucke; Anne De Paepe; Martinus F Niermeijer; Patrick J Willems
Journal:  Am J Med Genet A       Date:  2004-12-01       Impact factor: 2.802

6.  Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Authors:  Marco Castori; Marco Ritelli; Nicoletta Zoppi; Luisa Molisso; Nicola Chiarelli; Fulvio Zaccagna; Paola Grammatico; Marina Colombi
Journal:  Am J Med Genet A       Date:  2012-04-09       Impact factor: 2.802

7.  Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Authors:  Kim-Thanh Ong; Jérôme Perdu; Julie De Backer; Erwan Bozec; Patrick Collignon; Joseph Emmerich; Anne-Laure Fauret; Jean-Noël Fiessinger; Dominique P Germain; Gabriella Georgesco; Jean-Sebastien Hulot; Anne De Paepe; Henri Plauchu; Xavier Jeunemaitre; Stéphane Laurent; Pierre Boutouyrie
Journal:  Lancet       Date:  2010-09-07       Impact factor: 79.321

8.  Major vascular involvement in Behçet's disease: a retrospective study of 796 patients.

Authors:  Yunyun Fei; Xuemei Li; Sen Lin; Xiaojun Song; Qingjun Wu; Yanlin Zhu; Xin Gao; Wen Zhang; Yan Zhao; Xiaofeng Zeng; Fengchun Zhang
Journal:  Clin Rheumatol       Date:  2013-02-27       Impact factor: 2.980

9.  Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.

Authors:  Laurence Campens; Olivier M Vanakker; Bram Trachet; Patrick Segers; Bart P Leroy; Julie De Zaeytijd; Dirk Voet; Anne De Paepe; Tine De Backer; Julie De Backer
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-08-22       Impact factor: 8.311

10.  Nationwide study of the outcome of popliteal artery aneurysms treated surgically.

Authors:  H Ravn; D Bergqvist; M Björck
Journal:  Br J Surg       Date:  2007-08       Impact factor: 6.939

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.