Sara J E Verdonk, Silvia Storoni, Dimitra Micha, Joost G van den Aardweg, Paolo Versacci, Luca Celli, Ralph de Vries, Lidiia Zhytnik, Otto Kamp, Marianna Bugiani, Elisabeth M W Eekhoff
Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023...
January 19, 2024: Calcified Tissue International