Balasubramanian, M. orcid.org/0000-0003-1488-3695, Verschueren, A., Kleevens, S. et al. (9 more authors) (2019) Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone, 121. pp. 191-195. ISSN 8756-3282
Abstract
Osteogenesis imperfecta (OI) is the commonest form of heritable bone fragility. It is mainly characterized by fractures, hearing loss and dentinogenesis imperfecta. OI patients are at increased risk of cardiovascular disease of variable severity. Aortic aneurysm/dissection is one of the rarer but potentially serious cardiovascular complications of OI. So far, only six patients with aortic dissection and OI have been reported. As such, present OI diagnostic guidelines do not recommend systematic screening of patients for aortopathy. Here, we report on the clinical and molecular characteristics of three new OI patients and one additional patient with a first degree relative who presented with aortic dissection and/or aneurysm surgery. This observation further opens up the discussion on the need for and extent of cardiovascular screening in adult patients with OI.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2019 Elsevier. |
Keywords: | Aortic aneurysm; Aortic dissection; Cardiovascular disease; Osteogenesis imperfecta |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield) |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 11 Feb 2019 12:17 |
Last Modified: | 11 Feb 2019 12:17 |
Published Version: | https://doi.org/10.1016/j.bone.2019.01.022 |
Status: | Published |
Publisher: | Elsevier |
Refereed: | Yes |
Identification Number: | 10.1016/j.bone.2019.01.022 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:142381 |