Cardiovascular involvement in children with osteogenesis imperfecta

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Osteogenesis imperfecta (OI) is a genetic disorder affecting type I procollagen genes.
• Cardiac involvement is an extra-skeletal manifestation of OI, but its prevalence in children is not well-established.
• Early identification of cardiovascular abnormalities in pediatric OI patients is crucial.

Purpose of the Study:

• To determine the prevalence of cardiovascular abnormalities in children diagnosed with osteogenesis imperfecta.
• To compare cardiac dimensions and valve function between children with OI and a healthy control group.

Main Methods:

• A cohort of 24 children with OI was compared to 24 age- and sex-matched healthy children.
• Standard echocardiography was performed to assess cardiac structure and function.
• Measurements included left ventricle dimensions, aorta annulus, sinotubular junction, and ascending/descending aorta, with adjustments for body surface area.

Main Results:

• Children with OI exhibited significantly larger aortic annulus, sinotubular junction, and ascending aorta dimensions after body surface area correction.
• Prevalence of valvular heart disease was higher in the OI group: 8.3% with aortic insufficiency and 20% with tricuspid regurgitation.
• Abnormal Z scores for aortic root dimensions were observed in several OI patients, indicating dilation.

Conclusions:

• Children with osteogenesis imperfecta have an increased prevalence of aortic root dilation and valvular heart disease.
• Routine cardiovascular assessment is recommended for pediatric patients with osteogenesis imperfecta to monitor for cardiac complications.