Pulmonary function in the Marfan syndrome.

To explore the causes of reported abnormalities in pulmonary function in persons with the Marfan syndrome, we analyzed retrospective anthropometric and pulmonary function tests in 79 patients. For ten subjects, there were matched, related control subjects who did not have a connective tissue disorder. Patients had lower values of FVC and TLC than the values expected for their standing heights (83 and 91 percent). However, when sitting height was used to calculate expected spirometric values, patients free of severe deformity of the thoracic cage did not have significant spirometric abnormalities (FVC 105 percent, FEV1 92 percent). However, patients with moderate-to-severe pectus excavatum or scoliosis (common features of the Marfan syndrome) had marked reductions in total lung capacity as well as in FVC and FEV1, suggesting a restrictive ventilatory defect. The abnormalities of pulmonary function often found in clinical laboratories can be explained in most cases by inappropriate use of standing height to calculate expected values, by thoracic cage deformity, or by both. We have found no evidence from standard tests of pulmonary function for a connective tissue defect of lung parenchyma that is of clinical importance in Marfan patients who lack chest wall deformity.