Pulmonary disease in patients with Marfan syndrome

Hospital case notes and chest radiographs of 100 patients with Marfan syndrome were investigated for evidence of pulmonary disease. The criteria for inclusion of details of a given patient in the study were the occurrence of Marfan abnormalities in at least two separate body systems (skeletal, cardiovascular, ocular) or in one body system where there was a family history of a classically affected first degree relative. Selection of cases was biased towards those with cardiorespiratory problems by virtue of the hospitals from which the patients were drawn. Forty eight patients underwent cardiac surgery. Eleven patients had a history of spontaneous pneumothorax, which had been recurrent in 10 cases and bilateral in six. Eight had had pneumonia or excessively frequent respiratory infections and two had bronchiectasis. Chest radiographs showed emphysematous bullae in five, upper lobe fibrosis in four, and aspergilloma in two. The cases reviewed together with other published evidence suggest that spontaneous pneumothorax and bullae are causally related to Marfan syndrome. The presence of idiopathic upper lobe fibrosis in four Marfan patients is interesting but provides insufficient evidence to assess possible causality.