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

  • Heba Salah A. ElAbd
  • Mohamed Moghazy


Background: Osteogenesis 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 study: To asses the ECHO cardiographic findings in Egyptian osteogenesis imperfecta patients type III (OI III).

Patients and methods: This retrospective study included 35 OI III patients. Their age ranged from 2 months to 18 years 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.

Results: Abnormal 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 recommendation: The 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.

Keywords: Osteogenesis imperfecta; Cardiac function; ECHO; Osteogenesis imperfecta type III; Ventricular function; Extra skeletal abnormalities


Journal Identifiers

eISSN: 1110-8630