Valvular heart disease in osteogenesis imperfecta.

Area of Science:

• Cardiology
• Genetics
• Connective Tissue Diseases

Background:

• Osteogenesis imperfecta (OI) is a genetic disorder primarily affecting bones.
• Connective tissue abnormalities, including cardiac involvement, are known in OI, though less studied than in Marfan syndrome.
• Previous reports suggest a link between OI and aortic/mitral valve issues.

Observation:

• Two patients with osteogenesis imperfecta, a father and daughter, presented with aortic and mitral valve abnormalities.
• These valvular abnormalities appeared related to the underlying connective tissue disorder.
• The prevalence and severity in OI seem lower than in Marfan syndrome.

Findings:

• Cardiac connective tissue involvement in OI may be underrecognized, potentially overshadowed by orthopedic complications.
• Valvular lesions in OI patients can progress over time.
• Successful valve replacement is feasible in OI patients despite potential surgical challenges.

Implications:

• Cardiovascular evaluation, including attention to valvular findings, is essential for patients with osteogenesis imperfecta.
• Patients with noted valvular lesions require counseling on antibiotic prophylaxis for dental/surgical procedures.
• Regular cardiovascular follow-up is recommended for monitoring lesion progression and managing potential cardiac disability.