Literature DB >> 22302579

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome.

K de Leeuw1, J F Goorhuis, I F J Tielliu, S Symoens, F Malfait, A de Paepe, J P van Tintelen, J B F Hulscher.   

Abstract

A 9-year-old boy with the classical type of Ehlers-Danlos syndrome (EDS) developed a symptomatic aneurysm of the superior mesenteric artery. His EDS diagnosis had been confirmed biochemically and genetically. Vascular complications are known to be associated with the vascular type of EDS, but this is the first report of a child with classical EDS who developed a major vascular complication. Clinicians should be aware that severe vascular complications albeit rare, can also occur in classical EDS.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22302579     DOI: 10.1002/ajmg.a.34420

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  9 in total

1.  A Giant Superior Mesenteric Artery Aneurysm Mimicking an Abdominal Aortic Aneurysm.

Authors:  Wouter Hogendoorn; Felix J V Schlösser; Bauer E Sumpio
Journal:  Aorta (Stamford)       Date:  2013-06-01

2.  Mini-Laparotomy for Superior Mesenteric Artery Aneurysm Due to Takayasu's Arteritis.

Authors:  Takatsugu Matsumoto; Mitsuru Ishizuka; Yukihiro Iso; Junji Kita; Keiichi Kubota
Journal:  Int Surg       Date:  2015-04

Review 3.  Aetiology and management of hereditary aortopathy.

Authors:  Aline Verstraeten; Ilse Luyckx; Bart Loeys
Journal:  Nat Rev Cardiol       Date:  2017-01-19       Impact factor: 32.419

4.  Presentation and management of rare saccular superior mesenteric artery trunk and branch aneurysms.

Authors:  Sunny Sahajwani; Besher Tolaymat; Ali Khalifeh; Motahar Hosseini; Rafael Santini-Dominguez; David Blitzer; Rajabrata Sarkar; Shahab Toursavadkohi
Journal:  J Vasc Surg Cases Innov Tech       Date:  2020-07-19

Review 5.  Ehlers-Danlos syndromes and their manifestations in the visual system.

Authors:  Samuel Asanad; May Bayomi; Douglas Brown; Joshua Buzzard; Eric Lai; Carlthan Ling; Trisha Miglani; Taariq Mohammed; Joby Tsai; Olivia Uddin; Eric Singman
Journal:  Front Med (Lausanne)       Date:  2022-09-27

6.  A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.

Authors:  Julie Richer; Hannah L Hill; Yu Wang; Min-Lee Yang; Kristina L Hunker; Jamie Lane; Susan Blackburn; Dawn M Coleman; Jonathan Eliason; Guillaume Sillon; Maria-Daniela D'Agostino; Prasad Jetty; François-Pierre Mongeon; Anne-Marie Laberge; Stephen E Ryan; Natalia Fendrikova-Mahlay; Thais Coutinho; Michael R Mathis; Matthew Zawistowski; Stanley L Hazen; Alexander E Katz; Heather L Gornik; Chad M Brummett; Goncalo Abecasis; Ingrid L Bergin; James C Stanley; Jun Z Li; Santhi K Ganesh
Journal:  Arterioscler Thromb Vasc Biol       Date:  2020-09-17       Impact factor: 8.311

7.  Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Authors:  Marco Ritelli; Chiara Dordoni; Marina Venturini; Nicola Chiarelli; Stefano Quinzani; Michele Traversa; Nicoletta Zoppi; Annalisa Vascellaro; Anita Wischmeijer; Emanuela Manfredini; Livia Garavelli; Piergiacomo Calzavara-Pinton; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2013-04-12       Impact factor: 4.123

Review 8.  Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

Authors:  Sanne D'hondt; Tim Van Damme; Fransiska Malfait
Journal:  Genet Med       Date:  2017-10-05       Impact factor: 8.822

9.  Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

Authors:  Marco Ritelli; Marina Venturini; Valeria Cinquina; Nicola Chiarelli; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2020-07-31       Impact factor: 4.123

  9 in total

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