Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder characterized by defective type I collagen synthesis. In the cardiovascular system, type I collagen provides tensile strength and structural integrity to the myocardium, cardiac valves, chordae tendineae and great vessels. OI may therefore predispose affected individuals to various cardiovascular diseases. Limited existing literature suggests an increased risk of developing heart failure and valvular diseases in adults with OI, but data on cardiac involvement in pediatric OI remains limited.

This study aimed to investigate the prevalence and characteristics of structural and functional cardiac abnormalities in children with OI.

In 78 children (aged 1–18 years) with OI, pediatric cardiologists performed standardized ECG and echocardiographic evaluations. Z-scores were calculated using pediatric reference values and compared between OI subtypes.

None of our patients had clinically significant arrhythmias or required cardiovascular medication. Congenital heart defects were identified in 13 % of patients, most commonly ASD and PDA. Mild aortic or mitral valve regurgitation were observed in 7.3 % and 8.7 % of patients and aortic root dilation in 8.7 %, predominantly in moderate to severe OI. Aortic root and annulus diameters correlated with disease severity. Left ventricular systolic function and diastolic function were normal in all patients.

Clinically relevant cardiovascular disease is rare in children with OI, but mitral and aortic valve regurgitations and aortic root dilation are more prevalent in severe phenotypes. Echocardiographic screening should be considered before transition to adult care in patients with moderate to severe OI.