[Acute mitral insufficiency in osteogenesis imperfecta]

A 56-year-old woman with known osteogenesis imperfecta tarda but no obvious sign of cardiac disease developed increasing dyspnoea, eventually even at rest, with blood-streaked sputum over a period of 10 days. The chest radiograph demonstrated intraalveolar pulmonary oedema. Transthoracic echocardiography revealed as the likely cause of these signs chordal rupture of the anterior leaflet of the mitral valve with mitral regurgitation. After treatment of the cardiac failure with frusemide (up to 500 mg daily intravenously), nitrates and captopril (25 mg daily by mouth) the diagnosis was confirmed by transoesophageal echocardiography. Elective replacement of the mitral and aortic valves was performed 6 months later. Acid mucopolysaccharides were demonstrated histologically in the valvar stroma, a finding consistent with osteogenesis imperfecta. Echocardiography should be performed routinely in connective-tissue disease to reveal any possible cardiovascular involvement.