Echocardiographic findings in children with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by significant variation, which is due to qualitative or quantitative defects in the production of collagen. The prevalence of cardiovascular abnormalities in OI patients is unknown. This study aimed at investigating cardiac involvement in OI children using Echocardiography.

This cross-sectional research was performed on 65 patients diagnosed with OI in a children’s hospital in Tehran, Iran, from 2011 to 2012. The classification of OI was based on the Sillence criteria. A consultation with a skilled pediatric cardiologist was scheduled for the subjects, and echocardiography was carried out, using the Samsung HS70 ultrasonography machine (Medison Co., Seoul; South Korea). Data analysis was done using SPSS-22, chi-square and t-tests. The exact P-values were determined and P-values <0.05 were regarded significant.

Sixty percent of patients were male and 40% were female, with an average age of 6.95±4.36 years (ranged from 2 months to 17 years), respectively. Based on the Sillence classification, 20% of the cases were categorized in subtype I, 47.7% in subtype III, and 32.3% in subtype IV. The prevalence of aortic root dilatation, mitral valve prolapse (MVP), mitral regurgitation (MR) and tricuspid regurgitation (TR) were 13.8%, 15.38%, 7.6% and 15.38%, respectively. The MVP and female gender showed a significant relationship, whereas there was no relationship between MVP and patients’ subgroups.

Due to the significance of cardiac involvement in OI, echocardiography is recommended for all children with OI.