Familial spontaneous pneumothorax in two adult siblings with Marfan syndrome.

A 21-year-old adult with previously diagnosed Marfan syndrome (MS) was admitted to our hospital complaining of chest pains that resulted from a complete left spontaneous pneumothorax (SP). A chest roentgenogram showed a 70% pneumothorax on the left side. Because for 8 days chest tube drainage did not ameliorate the air leak, and also because a computed tomography (CT) scan showed many cystic opacities at the apical lung, a bullectomy was performed under video-assisted thoracic surgery (VATS). The patient's family history revealed that his father and two brothers had MS. Three family members had a unilateral SP, and his two siblings were treated under VATS and showed no evidence of recurrent pneumothorax. The simultaneous occurrence of MS and SP in these two patients suggests the possibility that both abnormalities in pulmonary connective tissue (e.g., collagen I) and the tall figure are responsible for the development of SP in MS patients. Because our patients and those in published reports are few in number, no definitive conclusion can be drawn about the relationship between SP and MS. Herein we describe a rare case of familial SP in two adult siblings with MS.