A Case of Aortic Regurgitation Associated with Osteogenesis Imperfecta Successfully Treated by Aortic Valve Replacement / 日本心臓血管外科学会雑誌

ABSTRACT

A 51-year-old man with osteogenesis imperfecta and who had aortic regurgitation was admitted to our hospital for aortic valve replacement. His height was 146cm and his weight was 49kg. The patient had suffered from bone fractures several times since childhood. Bone deformity, blue sclera and his status were clinically indicative of osteogenesis imperfecta. Aortic valve replacement with a 25mm SJM^® prosthetic valve was successfully performed for aortic valve insufficiency and slight annulo-aortic ectasia. Soft tissues and the sternum were fragile. Pathological examination (Elastica-Masson stain) of the aortic valve and left ventricular wall revealed a loss of fibrous tissues and remarkable thickening due to elastic fibers. The patient was discharged 31 days after surgery. Osteogenesis imperfecta is one of the collagen diseases caused by gene abnormality, in which fragile bones are easily fractured. Cardiovascular disease is rarely associated with it and the surgery-related mortality rate is reported to be approximately 30%, due to bleeding.