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06:55
Protein Isolation from the Developing Embryonic Mouse Heart Valve Region
Published on: September 23, 2014
Valvular and aortic diseases in osteogenesis imperfecta
Arvin Lamanna1, Trevor Fayers, Sophie Clarke
1Department of Cardiology, Royal Brisbane and Women's Hospital, Australia; School of Medicine, University of Queensland, Australia.
Heart, Lung & Circulation
|June 25, 2013
Summary
Osteogenesis imperfecta (OI), a collagen disorder, often involves heart valve issues. Surgical repair of mitral and aortic valves is possible but high-risk in OI patients.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Connective Tissue Disorders
Background:
- Osteogenesis imperfecta (OI) is a genetic disorder affecting collagen synthesis, leading to bone fragility.
- OI is associated with cardiovascular complications, including left-sided valvular regurgitation and aortic dilation.
- Cardiac surgery in OI patients presents significant risks due to the underlying connective tissue defect.
Purpose of the Study:
- To review valvular and aortic pathology in Osteogenesis imperfecta (OI).
- To discuss management strategies for cardiac conditions in OI patients.
- To report on surgical outcomes for valve repair and replacement in OI.
Main Methods:
- Literature review of valvular and aortic pathology in OI.
- Case report of two patients with OI experiencing significant aortic and mitral regurgitation.
- Detailed description of conservative management and surgical intervention (mitral valve repair and aortic valve replacement).
Main Results:
- Patients with OI can present with severe aortic and mitral valve regurgitation.
- Conservative management is one approach for cardiac issues in OI.
- Successful mitral valve repair and aortic valve replacement were performed in one OI patient, a rare procedure.
Conclusions:
- Valvular and aortic disease are recognized complications of Osteogenesis imperfecta.
- Surgical intervention for cardiac pathology in OI is feasible, though high-risk.
- Mitral valve repair in OI patients, while uncommon, can be successful, as evidenced by this case series.
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