[Cardiac abnormalities in osteogenesis imperfecta. Case-control echocardiographic study].

Area of Science:

• Cardiology
• Genetics
• Rare Diseases

Background:

• Osteogenesis imperfecta (OI) is a genetic disorder affecting type 1 collagen synthesis, impacting skeletal and extra-skeletal tissues.
• Cardiac manifestations, including aortic root dilatation and valvular dysfunction, are recognized complications of OI.

Purpose of the Study:

• To investigate the prevalence of cardiac abnormalities in patients with osteogenesis imperfecta.
• To compare cardiac parameters in OI patients with an age- and sex-matched healthy control group.

Main Methods:

• Prospective study involving 26 patients with OI and 25 healthy controls.
• Standard transthoracic echocardiography, including M-mode, 2D, and color Doppler, was performed on all participants.

Main Results:

• No significant differences in left ventricular function or valvulopathy incidence were observed between groups.
• Patients with OI exhibited significantly larger aortic root, left atrium, and left ventricle dimensions indexed by body surface area.
• A higher aortic root to left ventricle diastolic diameter ratio, independent of body surface area, was found in OI patients.

Conclusions:

• Valvular disease incidence in osteogenesis imperfecta is comparable to the general population.
• Aortic root dimensions are significantly larger in OI patients compared to controls.
• The increased aortic root size in OI is associated with left ventricular diastolic diameter.