Osteogenesis imperfecta and cardiovascular diseases

Abstract

Aortic and mitral valvular insufficiency in patients with osteogenesis imperfecta result from an underlying defect in connective tissue formation. The surgical cases reported in the literature have included mechanical and bioprosthetic valve replacement as well as attempts at repair and reconstruction. Despite complications related to bleeding and tissue friability, acceptable results have been obtained. In this report, we describe aortic regurgitation secondary to osteogenesis imperfecta treated with homograft replacement. The unique cardiovascular complications of osteogenesis imperfecta and the available therapeutic options are discussed in light of the literature review.