Document Detail


Ehlers-Danlos syndrome type IV and multiple aortic aneurysms--a case report.
MedLine Citation:
PMID:  11269788     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Beside atherosclerosis, aortic aneurysms can be part of the clinical spectrum of many systemic diseases, including infectious, inflammatory, genetic and, less often, congenital disorders. A 48-year-old white man presented with multiple large aneurysms of the aorta and its main branches. Medical history was unremarkable except for the presence of a softened abdominal mass since he was 28 years old. On the physical examination, an arterial murmur was heard over the left carotid artery and a palpable mass was noted in the whole right side of the abdomen. No skin or joint abnormalities were noted. Aortography, computed tomography, and magnetic resonance angiography showed multiple large aneurysms of the descending thoracic and abdominal aorta. Aneurysms of the innominate, left subclavian, and carotid arteries were also seen. This case resembles those previously reported, in which multiple aortic aneurysms were associated with abnormalities of the type III procollagen gene (COL3A1). Although the classic stigmas of the Ehlers-Danlos syndrome type IV were lacking, this genetic disease may be the cause of the multiple aneurysms in this patient.
Authors:
E de Paiva Magalhães; S R Fernandes; V A Zanardi; C A Furtado Medeiros; R Y Midori; Z Sachetto; A M Samara
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Angiology     Volume:  52     ISSN:  0003-3197     ISO Abbreviation:  Angiology     Publication Date:  2001 Mar 
Date Detail:
Created Date:  2001-03-27     Completed Date:  2001-04-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0203706     Medline TA:  Angiology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  223-8     Citation Subset:  IM    
Affiliation:
Department of Rheumatology, Medical Sciences School of State University of Campinas, SP, Brazil. eduardo@hc.unicamp.br
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MeSH Terms
Descriptor/Qualifier:
Aneurysm / diagnosis,  etiology*
Angiography
Aortic Aneurysm, Abdominal / diagnosis,  etiology
Aortic Aneurysm, Thoracic / diagnosis,  etiology
Brachiocephalic Trunk / pathology,  radiography
Carotid Artery Diseases / diagnosis,  etiology
Diagnosis, Differential
Ehlers-Danlos Syndrome / complications*,  genetics,  metabolism
Humans
Iliac Aneurysm / diagnosis,  etiology
Magnetic Resonance Angiography
Male
Middle Aged
Procollagen / genetics,  metabolism
Subclavian Artery / pathology,  radiography
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
0/Procollagen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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