Alteraciones cardiacas en la osteogénesis imperfecta. Estudio ecocardiográfico de casos y controles

Background and objectives: Osteogenesis imperfecta is a rare disease with abnormal synthesis of type 1 collagen that affects diverse extra-skeletal tissues. Aortic root dilatation and valvular dysfunction have been described. Our purpose was to evaluate the prevalence of cardiac abnormalities in patients with osteogenesis imperfecta in comparison with an age and sex-matched control group of healthy people. Patients and methods: We prospectively studied 26 patients with osteogenesis imperfecta and compared them with 25 healthy people. All patients underwent a transthoracic standard M-mode, 2D and colour Doppler study. Results: We did not find significant differences between both groups in the left ventricular diastolic and systolic function and the incidence of valvulopathies. The dimensions of the aortic root, left atrium and left ventricle when indexed by body surface area were significantly larger in patients with osteogenesis imperfecta compared with the control group, which was probably due to the reduced body surface of these patients. However there was a significant difference in the aortic root/telediastolic diameter of left ventricle ratio independent of the body surface, which was higher in patients with osteogenesis imperfecta. Conclusions: The incidence of valvular disease in osteogenesis imperfecta is similar to that of the normal population. However aortic root is larger in the former patients and is related to the left ventricular diastolic diameter.