Pneumothorax in the Marfan Syndrome: Prevalence and Therapy

At least twenty-four reports of pneumothorax associated with the Marfan syndrome have appeared in the medical literature, but the frequency and optimal method of treatment remain unclear. We conducted a retrospective review of medical records from one genetics clinic and found that the frequency of spontaneous pneumothorax in patients older than 12 years with Marfan's syndrome was 4.4% (11 out of 249). Men were more commonly, but no more severely, affected than women. Seven patients had recurrent or bilateral pneumothorax. In 9 of the 11 patients, apical bullae were present and detectable on chest radiograph. Pneumothorax frequently recurred if not treated by resection of the offending bullae. We recommend that all adolescent and adult patients with the Marfan syndrome undergo chest radiography for ascertainment of the gross pathological condition of the lung. Definitive surgical treatment should be performed at the first occurrence of pneumothorax because of the high rate of recurrence after treatment with a chest tube, with or without pleurodesis.