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.

成骨不全症 (OI) 是一种罕见的遗传性疾病，由 I 型胶原蛋白生成异常引起。虽然成骨不全症的主要特点是骨骼脆弱和畸形，但患者也有骨骼外表现，包括心血管疾病的风险增加。本综述对成骨不全患者心血管疾病的文献进行了全面概述，以提高对成骨不全这一尚未研究的临床方面的认识并支持临床指南。根据 PRISMA 指南，我们在 PubMed、Embase、Web of Science 和 Scopus 中进行了系统的文献检索，其中包括从这些数据库成立到 2023 年 4 月的文章。瓣膜病、心力衰竭、心房颤动和高血压似乎是成骨不全症中比对照个体更普遍。此外，与对照组相比，成骨不全症患者的主动脉根部更大。各种心血管疾病在成骨不全症患者中似乎比对照组更为普遍。这些心血管异常在所有类型的成骨不全症和所有年龄段（包括幼儿）中均可见。由于缺乏足够的纵向研究，尚不清楚这些异常在成骨不全患者中是否具有进展性。根据这些发现，我们建议将成骨不全患者转诊给门槛较低的心脏病专家。