Structural and functional changes in the heart of adult patients with osteogenesis imperfecta: Case-control study

Abstract Introduction and objectives Osteogenesis imperfecta (OI) is a connective tissue disease characterised by an anomalous synthesis of type I collagen. Little is known about the cardiovascular affectation suffered by these patients. The most frequently described are valvular dysfunction and dilatation of the aorta. We wanted to analyse the structural and functional changes of the heart in adult patients with OI. Methods We prospectively studied 82 patients with OI and compared them with 60 healthy subjects matched for age and sex. All of them underwent an echocardiographic study. Results We found no differences in the incidence of valvulopathies compared to the control group. Our patients had a larger left atrium and larger left ventricle (LV) diameters adjusted for body surface area. Aortic root was significantly higher. LV ejection fraction in patients with OI was lower and they had higher pulmonary artery systolic pressure. Conclusions Patients with OI suffer structural and functional changes in the heart. A follow-up is recommended to observe the evolution of these changes.