Cardiological assessment of a cohort of Egyptian patients with osteogenesis imperfecta type III

AbstractBackgroundOsteogenesis imperfecta is a genetic disorder of bones, which has different types. Type III is characterized by recurrent fractures, progressive bone deformities. Cardiac manifestation is one of the important extraskeletal manifestations.Aim of the studyTo asses the ECHO cardiographic findings in Egyptian osteogenesis imperfecta patients type III (OI III).Patients and methodsThis retrospective study included 35 OI III patients. Their age ranged from 2months to 18years with a mean of 6.34±4.85. Standard echocardiography was performed, and heart valves were examined. The dimensions of the left ventricle, and ejection fraction were measured.ResultsAbnormal ECHO findings were found in 8 patients (22.9%). Atrial septal defect (ASD), and patent ductus arteriosus (PDA) were the commonest cardiac findings with 5.7% each. Trivial tricuspid regurge was found in 9 patients, this was considered normal finding. There was no significant difference in ECHO findings between males and females with OI III.Conclusion and recommendationThe presence of cardiac abnormalities is documented in OI patients whether congenital or valvular, and so ECHO cardiography should be routine in all patients with OI