Valvular Heart Disease in Osteogenesis Imperfecta: Presentation of a Case and Review of the Literature

Osteogenesis imperfecta (OI) is a rare inheritable disorder of connective tissue. While musculoskeletal abnormalities are well known, cardiovascular involvement is rare. Aortic root dilation is the most common cardiovascular manifestation. OI preferentially affects the left-sided heart valves, for unclear reasons, leading to aortic and mitral regurgitation. Valve replacement surgery carries a unique set of issues in this population, and fewer than 40 cases have been reported. We report a case of chronic severe aortic regurgitation in a patient with OI complicated by the development of a flail aortic valve leaflet and presenting with a transient ischemic attack. The patient subsequently underwent successful combined bioprosthetic aortic valve replacement and coronary artery bypass grafting. We review the literature on valvular disease and other cardiovascular manifestations in OI and the related surgical considerations relevant to this patient population. (Echocardiography 2010;27:69-73).