Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.

Autor: Verdonk SJE; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Rare Bone Disease Center, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Amsterdam, The Netherlands., Storoni S; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Rare Bone Disease Center, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Amsterdam, The Netherlands., Micha D; Rare Bone Disease Center, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Amsterdam, The Netherlands., van den Aardweg JG; Department of Respiratory Medicine, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands., Versacci P; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Celli L; Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., de Vries R; Medical Library, Vrije Universiteit, Amsterdam, The Netherlands., Zhytnik L; Rare Bone Disease Center, Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Department of Traumatology and Orthopeadics, University of Tartu, Tartu, Estonia., Kamp O; Department of Cardiology, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands., Bugiani M; Department of Pathology, Amsterdam UMC Location AMC, Amsterdam, The Netherlands., Eekhoff EMW; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Rare Bone Disease Center, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Movement Sciences, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Reproduction and Development, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.
Jazyk: angličtina
Zdroj: Calcified tissue international [Calcif Tissue Int] 2024 Mar; Vol. 114 (3), pp. 210-221. Date of Electronic Publication: 2024 Jan 19.
DOI: 10.1007/s00223-023-01171-3
Abstrakt: 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. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold.
(© 2024. The Author(s).)
Databáze: MEDLINE
Externí odkaz: