Marfan syndrome with pneumothorax: case report and review of literatures

Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus. The chest computed tomography (CT) suggested hydropneumothorax in right lung. Computer tomographic angiography (CTA) of aorta showed aneurysm-like aortic root dilation at 52 mm with mild to moderate aortic regurgitation. Marfan syndrome was diagnosed and David I operation and bullectomy were performed. This case indicates that pulmonary symptoms like secondary spontaneous pneumothorax, bullae, emphysema can manifest as initial symptoms of undiagnosed Marfan syndrome.