A 54 year old woman was admitted for cardiac catheterisation. She had-been attending the outpatient clinic since 1975, with regular review. She had diagnoses of type I osteogenesis imperfecta, and of supravalvular aortic stenosis. Osteogenesis imperfecta was diagnosed in early life on clinical grounds including the presence of blue sclerae and the occurrence of several bone fractures secondary to minimal trauma. A number of family members have been diagnosed with the same condition (figure 1-family pedigree). The supravalvular aortic stenosis was not diagnosed until later. She was initially referred to the cardiology clinic for further evaluation following the discovery of a systolic murmu
