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Heart Lung Circ. 2013 Oct;22(10):801-10. doi: 10.1016/j.hlc.2013.05.640. Epub 2013 Jun 21.

Valvular and aortic diseases in osteogenesis imperfecta.

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Department of Cardiology, Royal Brisbane and Women's Hospital, Australia; School of Medicine, University of Queensland, Australia.


Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder caused by defective collagen synthesis with the principal manifestations of bone fragility. OI has been associated with left sided valvular regurgitation and aortic dilation. Valve and aortic surgery are technically feasible in patients with OI but are inherently high risk due to the underlying connective tissue defect. This report reviews the valvular and aortic pathology associated with OI and their management. We describe two cases of patients with OI who have significant aortic and mitral valve regurgitation, one of whom has been managed conservatively and the other who has undergone successful mitral valve repair and aortic valve replacement. The latter case represents the fifth case of mitral valve repair in a patient with OI reported in the medical literature.


Aortic disease; Osteogenesis imperfecta; Valve repair; Valve replacement; Valvular disease

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