{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T00:33:58Z","timestamp":1788568438457,"version":"build-2803163510"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004807","name":"DFG","doi-asserted-by":"publisher","award":["384170921"],"award-info":[{"award-number":["384170921"]}],"id":[{"id":"10.13039\/100004807","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The BCM IDDRC","award":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}]},{"name":"Brittle Bone Diseases Consortium","award":["U54AR068069"],"award-info":[{"award-number":["U54AR068069"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels, and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI. However, there is no consensus on how CVD in OI should be assessed or managed. To fill this gap, a multidisciplinary group was convened to develop clinical guidance. The work included a systematic review of the available literature and, using a modified Delphi approach, the development of a series of statements summarizing current knowledge. Fourteen clinical recommendations were developed to guide clinicians, patients, and stakeholders about an approach for CVD in adults with OI. This paper describes how the work was conducted and provides the background and rationale for each recommendation. Furthermore, we highlight knowledge gaps and suggest research priorities for the future study of CVD in OI.<\/jats:p>","DOI":"10.1093\/jbmr\/zjae197","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T12:10:41Z","timestamp":1734005441000},"page":"211-221","source":"Crossref","is-referenced-by-count":9,"title":["Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique"],"prefix":"10.1093","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6266-6439","authenticated-orcid":false,"given":"Lars","family":"Folkestad","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Odense University Hospital , 5000 Odense ,","place":["Denmark"]},{"name":"Department of Clinical Research, University of Southern Denmark , 5000 Odense ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth K","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, John P and Kathrine G McGovern Medical School, University of Texas Health Science Center at Houston , Houston, 77030 TX ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandesh C S","family":"Nagamani","sequence":"additional","affiliation":[{"name":"Molecular and Human Genetics and Medicine, Baylor College of Medicine and Texas Children's Hospital , Houston TX, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels Holmark","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Aalborg University Hospital , 9000 Aalborg ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8754-6354","authenticated-orcid":false,"given":"Erin","family":"Carter","sequence":"additional","affiliation":[{"name":"Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery , New York, 10021 NY ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jannie Dahl","family":"Hald","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus ,","place":["Denmark"]},{"name":"Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital , 8200 Aarhus ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riley J","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Oregon Health and Science University , Portland, 97239 OR ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bente","family":"Langdahl","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus ,","place":["Denmark"]},{"name":"Department of Clinical Medicine, Aarhus University , 8200 Aarhus ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor M","family":"Perfetto","sequence":"additional","affiliation":[{"name":"Practice, Science, and Health Outcomes Research, University of Maryland School of Pharmacy , Baltimore, 21201 MD ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathleen","family":"Raggio","sequence":"additional","affiliation":[{"name":"Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery , New York, 10021 NY ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2804-7586","authenticated-orcid":false,"given":"Stuart H","family":"Ralston","sequence":"additional","affiliation":[{"name":"Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh , Edinburgh EH 2XU ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A","family":"Sandhaus","sequence":"additional","affiliation":[{"name":"National Jewish Health , Denver, 80206 CO ,","place":["United States"]},{"name":"Alpha-1 Foundation and AlphaNet , Coral Gables, 33134 FL ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0029-7556","authenticated-orcid":false,"given":"Oliver","family":"Semler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine at the University of Cologne, University Hospital Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Tosi","sequence":"additional","affiliation":[{"name":"Division of Orthopedics and Sports Medicine, Children's National Hospital and George Washington University School of Medicine and Health Sciences , Washington, 20010 DC ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Orwoll","sequence":"additional","affiliation":[{"name":"Department of Medicine, Oregon Health and Science University , Portland, 97239 OR ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,12,12]]},"reference":[{"issue":"1","key":"2025020314505284700_ref1","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"2025020314505284700_ref2","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1186\/s13023-023-02849-5","article-title":"Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification","volume":"18","author":"Yu","year":"2023","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"2025020314505284700_ref3","doi-asserted-by":"publisher","first-page":"R95","DOI":"10.1530\/eje-20-0299","article-title":"Osteogenesis imperfecta: an update on clinical features and therapies","volume":"183","author":"Marom","year":"2020","journal-title":"Eur J Endocrinol"},{"key":"2025020314505284700_ref4","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.10.2011.4910","article-title":"Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man","volume":"2011","author":"Kaliaperumal","year":"2011","journal-title":"BMJ Case Rep"},{"issue":"2","key":"2025020314505284700_ref5","first-page":"1005","article-title":"Structure and function of connective tissue in cardiac muscle: collagen types I and III in endomysial struts and pericellular fibers","volume":"2","author":"Robinson","year":"1988","journal-title":"Scanning Microsc"},{"issue":"2","key":"2025020314505284700_ref6","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1042\/bj2190451","article-title":"Collagen composition of normal and myxomatous human mitral heart valves","volume":"219","author":"Cole","year":"1984","journal-title":"Biochem J"},{"issue":"1","key":"2025020314505284700_ref7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/bf00228448","article-title":"Collagen and the myocardium: fibrillar structure, biosynthesis and degradation in relation to hypertrophy and its regression","volume":"96","author":"Eghbali","year":"1990","journal-title":"Mol Cell Biochem"},{"key":"2025020314505284700_ref8","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1146\/annurev-physiol-012110-142145","article-title":"Heart valve structure and function in development and disease","volume":"73","author":"Hinton","year":"2011","journal-title":"Annu Rev Physiol"},{"key":"2025020314505284700_ref9","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.ijcard.2015.06.001","article-title":"Heart disease in patients with osteogenesis imperfecta\u2014a systematic review","volume":"196","author":"Ashournia","year":"2015","journal-title":"Int J Cardiol"},{"issue":"3","key":"2025020314505284700_ref10","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1007\/s00223-023-01171-3","article-title":"Is osteogenesis imperfecta associated with cardiovascular abnormalities? A systematic review of the literature","volume":"114","author":"Verdonk","year":"2024","journal-title":"Calcif Tissue Int"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjae197\/61086273\/zjae197.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/40\/2\/211\/61086273\/zjae197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/40\/2\/211\/61086273\/zjae197.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T14:51:08Z","timestamp":1738594268000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/40\/2\/211\/7922271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,12]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,12,12]]},"published-print":{"date-parts":[[2025,2,2]]}},"URL":"https:\/\/doi.org\/10.1093\/jbmr\/zjae197","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,2]]},"published":{"date-parts":[[2024,12,12]]}}}