Literature DB >> 12180144

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.

Richard J Wenstrup1, Richard A Meyer, Jennifer S Lyle, Leah Hoechstetter, Peter S Rose, Howard P Levy, Claire A Francomano.   

Abstract

PURPOSE: To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS).
METHODS: In a prospective cohort study, aortic measurements by two-dimensional echocardiography were performed on consecutive EDS patients.
RESULTS: Twenty-eight percent (20 of 71) had aortic root dilation (ARD) (> +2 SD above population based norms). Fourteen of 42 individuals with the classical form of EDS (types I/II) and 6 of 29 individuals with the hypermobile form (type III) had ARD, with no gender differences.
CONCLUSION: ARD is a common finding in EDS. Longitudinal studies are indicated to determine progression of ARD and its clinical significance.

Entities:  

Mesh:

Year:  2002        PMID: 12180144     DOI: 10.1097/00125817-200205000-00003

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  29 in total

1.  Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Authors:  Janine Meienberg; Marianne Rohrbach; Stefan Neuenschwander; Katharina Spanaus; Cecilia Giunta; Sira Alonso; Eliane Arnold; Caroline Henggeler; Stephan Regenass; Andrea Patrignani; Silvia Azzarello-Burri; Bernhard Steiner; Anders O H Nygren; Thierry Carrel; Beat Steinmann; Gábor Mátyás
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

2.  Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Authors:  F Malfait; S Symoens; P Coucke; L Nunes; S De Almeida; A De Paepe
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

3.  Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.

Authors:  Arick C Park; Noel Phan; Dawiyat Massoudi; Zhenjie Liu; John F Kernien; Sheila M Adams; Jeffrey M Davidson; David E Birk; Bo Liu; Daniel S Greenspan
Journal:  Am J Pathol       Date:  2017-07-19       Impact factor: 4.307

4.  Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Authors:  Filippo Camerota; Marco Castori; Claudia Celletti; Marco Colotto; Silvia Amato; Alessandra Colella; Mario Curione; Chiara Danese
Journal:  Clin Rheumatol       Date:  2014-04-22       Impact factor: 2.980

Review 5.  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

6.  Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome.

Authors:  Abir Zainal; Mahmoud Nidal Hamad; Syed Yaseen Naqvi
Journal:  BMJ Case Rep       Date:  2016-07-13

Review 7.  Vascular Genetics: Presentations, Testing, and Prognostics.

Authors:  Aaron W Aday; Sarah E Kreykes; Christina L Fanola
Journal:  Curr Treat Options Cardiovasc Med       Date:  2018-11-13

Review 8.  Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

Authors:  Adam J Brownstein; Bulat A Ziganshin; Helena Kuivaniemi; Simon C Body; Allen E Bale; John A Elefteriades
Journal:  Aorta (Stamford)       Date:  2017-02-01

Review 9.  Open Versus Endovascular or Hybrid Thoracic Aortic Aneurysm Repair.

Authors:  Ryan Clare; Julianne Jorgensen; Somjot S Brar
Journal:  Curr Atheroscler Rep       Date:  2016-10       Impact factor: 5.113

10.  Aortic root dilation in patients with 22q11.2 deletion syndrome.

Authors:  Anitha S John; Donna M McDonald-McGinn; Elaine H Zackai; Elizabeth Goldmuntz
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

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