Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique

Lars Folkestad, Department of Endocrinology, Odense University Hospital, 5000 Odense, Denmark.
Siddharth K. Prakash, Department of Internal Medicine, John P and Kathrine G McGovern Medical School, University of Texas Health Science Center at Houston, Houston, 77030 TX, United States.
Sandesh C. Nagamani, Molecular and Human Genetics and Medicine, Baylor College of Medicine and Texas Children's Hospital, Houston TX, TX 77030, United States.
Niels Holmark Andersen, Department of Cardiology, Aalborg University Hospital, 9000 Aalborg, Denmark.
Erin Carter, Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, 10021 NY, United States.
Jannie Dahl Hald, Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8200 Aarhus, Denmark.
Riley J. Johnson, Department of Medicine, Oregon Health and Science University, Portland, 97239 OR, United States.
Bente Langdahl, Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8200 Aarhus, Denmark.
Eleanor M. Perfetto, Practice, Science, and Health Outcomes Research, University of Maryland School of Pharmacy, Baltimore, 21201 MD, United States.
Cathleen Raggio, Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, 10021 NY, United States.
Stuart H. Ralston, Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh EH 2XU, United Kingdom.
Robert A. Sandhaus, National Jewish Health, Denver, 80206 CO, United States.
Oliver Semler, Department of Pediatrics, Faculty of Medicine at the University of Cologne, University Hospital Cologne, 50937 Cologne, Germany.
Laura Tosi, Division of Orthopedics and Sports Medicine, Children's National Hospital and George Washington University School of Medicine and Health Sciences, Washington, 20010 DC, United States.
Eric Orwoll, Department of Medicine, Oregon Health and Science University, Portland, 97239 OR, United States.

Document Type

Journal Article

Publication Date

2-2-2025

Journal

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Volume

40

Issue

2

DOI

10.1093/jbmr/zjae197

Keywords

cardiovascular disease; collagen type 1; delphi process; osteogenesis imperfecta; systematic review

Abstract

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.

Department

Orthopaedic Surgery

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