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, & Department of Clinical Research, University of Southern Denmark, 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, Texas, United States.
Sandesh C. Nagamani, Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital Houston TX, United States.
Niels Holmark Andersen, Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.
Erin Carter, Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, United States.
Jannie Dahl Hald, Department of Endocrinology and Internal Medicine & Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Riley J. Johnson, Department of Medicine, Oregon Health & Science University, Portland, OR, United States.
Bente Langdahl, Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Eleanor M. Perfetto, Practice, Science, and Health Outcomes Research, University of Maryland, Baltimore, School of Pharmacy, Baltimore, MD, United States.
Cathleen Raggio, Kathryn O. & Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, United States.
Stuart Ralston, Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH 2XU, United Kingdom.
Robert A. Sandhaus, National Jewish Health, Denver, Colorado, Alpha-1 Foundation and AlphaNet, Coral Gables, FL, United States.
Oliver Semler, Department of Pediatrics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Laura Tosi, Division of Orthopedics & Sports Medicine, Children's National Hospital and George Washington University School of Medicine and Health Sciences, Washington, DC, United States.
Eric Orwoll, Department of Medicine, Oregon Health & Science University, Portland, OR, United States.

Document Type

Journal Article

Publication Date

12-12-2024

Journal

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

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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