Echocardiographic study in children with osteogenesis imperfecta.

BACKGROUND

Osteogenesis imperfecta is a collagen type I bone disorder. Recently, extra-skeletal manifestations have been described, including many cardiovascular alterations. This study aims to report echocardiogram study in children with osteogenesis imperfecta compared to a control group.

METHODS

A cross-sectional comparative study took place in the Reference Center for Treatment of Osteogenesis Imperfecta in Southern Brazil. Fifty-four patients with osteogenesis imperfecta were paired with 54 controls, based on body surface area, and echocardiogram findings were compared.

RESULTS

All cases were asymptomatic for cardiac manifestations. The case group presented significant larger values in aortic diameter, left atrium diameter, left ventricule end-diastolic diameter, left ventricule end-systolic diameter, and right ventricle diameter compared with the control group. The analysis considering the severity of osteogenesis imperfecta shows that in mild osteogenesis imperfecta, the aortic diameter (p < 0.001), left atrium diameter (p = 0.002), left ventricule end-diastolic diameter (p = 0.001), left ventricule end-systolic diameter (p = 0.026), and right ventricle diameter (p < 0.001) were significantly larger than in the control group. Patients with moderate/severe osteogenesis imperfecta had similar results, with aortic diameter (p < 0.001), left atrium diameter (p < 0.001), left ventricule end-diastolic diameter (p = 0.013), and left ventricule end-systolic diameter (0.004) statistically larger than controls. Twenty-six (48.1%) of the cases had physiological tricuspid regurgitation and in controls this finding was observed in eight (14.8%) (p < 0.001).

CONCLUSION

Children with osteogenesis imperfecta presented cardiac function within the normal pattern, but dimensions of left ventricular dimensions were increased compared to the ones of the controls.