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• W1801471553 abstract "Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI.The aim of this systematic literature review was to investigate whether patients with OI have an increased risk of cardiovascular disease compared to healthy adults.PubMed, Embase and key scientific meetings were searched for publications fulfilling the inclusion criteria.Studies were selected if at least one patient with OI was described as having cardiovascular disease. The articles should be written in English, French, Italian, Spanish, German, Norwegian or Danish or have an English abstract.Data were extracted by HA, FTJ and LF using a predefined protocol.A total of 68 studies were included in the review, comprising 51 case reports, 8 small case series (n<10 patients), 4 large case series (n ≥ 10 patients) and 5 cross-sectional studies comparing patients and controls. Together, the papers comprised 499 patients and covered 45 years of medical literature. The most commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other.The findings support the hypothesis that patients with OI have increased risk of heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular." @default.
• W1801471553 created "2016-06-24" @default.
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• W1801471553 date "2015-10-01" @default.
• W1801471553 modified "2023-10-16" @default.
• W1801471553 title "Heart disease in patients with osteogenesis imperfecta — A systematic review" @default.
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• W1801471553 doi "https://doi.org/10.1016/j.ijcard.2015.06.001" @default.
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