Cardiovascular Disease in Adults With Osteogenesis Imperfecta: Clinical Characteristics, Care Recommendations, and Research Priorities Identified Using a Modified Delphi Technique

Authors

Lars Folkestad
Siddharth K Prakash
Sandesh C S Nagamani
Niels Holmark Andersen
Erin Carter
Jannie Dahl Hald
Riley J Johnson
Bente Langdahl
Eleanor M Perfetto
Cathleen Raggio
Stuart H Ralston
Robert A Sandhaus
Oliver Semler
Laura Tosi
Eric Orwoll

Publication Date

2-2-2025

Journal

Journal of Bone and Mineral Research

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.

Keywords

Osteogenesis Imperfecta, Humans, Cardiovascular Diseases, Delphi Technique, Adult, Female, cardiovascular disease, collagen type 1, delphi process, osteogenesis imperfecta, systematic review

DOI

10.1093/jbmr/zjae197

PMID

39665364

PMCID

PMC11789389

PubMedCentral® Posted Date

12-12-2024

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes