Structural and functional changes in the heart of adult patients with osteogenesis imperfecta: Case-control study

Area of Science:

• Cardiology
• Genetics
• Connective Tissue Diseases

Background:

• Osteogenesis Imperfecta (OI) is a genetic disorder affecting collagen synthesis, leading to bone fragility.
• Cardiovascular manifestations in OI patients, such as valvular dysfunction and aortic dilatation, are not fully understood.
• This study investigates cardiac structural and functional alterations in adult OI patients.

Purpose of the Study:

• To analyze the structural and functional cardiac changes in adult patients diagnosed with Osteogenesis Imperfecta.
• To compare cardiac parameters between OI patients and a healthy control group.
• To identify specific echocardiographic findings associated with OI.

Main Methods:

• Prospective study involving 82 adult patients with OI and 60 age- and sex-matched healthy controls.
• Comprehensive echocardiographic assessment performed on all participants.
• Analysis of left atrium and ventricle dimensions, aortic root size, left ventricular ejection fraction, and pulmonary artery systolic pressure.

Main Results:

• No significant difference in valvulopathy incidence between OI patients and controls.
• OI patients exhibited significantly larger left atrium and left ventricle diameters (adjusted for body surface area).
• Aortic root dimensions were significantly increased in OI patients, alongside lower left ventricular ejection fraction and higher pulmonary artery systolic pressure.

Conclusions:

• Adult patients with Osteogenesis Imperfecta present with distinct structural and functional cardiac modifications.
• These cardiac changes include left heart chamber enlargement and impaired ventricular function.
• Regular follow-up is recommended to monitor the progression of cardiovascular alterations in OI patients.