Pulmonary hyperinflation and emphysema in infants with the Marfan syndrome

Abstract

The Marfan syndrome is a dominantly inherited disorder of type I collagen with well recognized skeletal, cardiac and opthalmological manifestations. Less recognized are the pulmonary manifestations of the disease. Although chronic pulmonary emphysema, interstitial lung disease with honey combing and spontaneous pneumothorax have been sporadically reported, there is no documentation of these abnormalities in the radiological literature. We describe the clinical and radiographic findings in the lungs of four infants with Marfan's syndrome and provide pathologic correlation from autopsy specimens of two of these patients. In addition, we have updated the literature describing the pulmonary abnormalities of this still obscure disorder.