Abstract Marfan syndrome is an autosomal dominant connective tissue disease that typically affects the musculoskeletal, cardiovascular, and ocular systems. This is due to a mutation encoding fibrillin, resulting in complications from defective connective tissue (Elastin primarily). Pulmonary manifestations, although not classical, can also be seen, which can present as the following: emphysema, pneumothorax, sleep apnea, asthma, bronchiectasis, and interstitial lung disease. We present a case of a patient with Marfan syndrome complicated by spontaneous secondary pneumothorax (SSP). We present a case of a 49-year-old male with a prior medical history of Marfan syndrome with multiple complications, such as aortic dissection requiring aortic graft and valve replacement, retinal detachment, and an extensive smoking history (40 pack years), who presented with a sudden onset of chest pain and shortness of breath. Chest imaging showed a large right-sided pneumothorax with mediastinal shift. A pigtail chest tube catheter was placed successfully with reexpansion of the right lung. CT imaging revealed paraseptal emphysematous changes with prominent right-sided blebs. Due to the patient having a high risk of recurrent pneumothorax in the setting of prior diagnosed Marfan syndrome and emphysema with blebs on imaging, pleurodesis with surgical resection was pursued. Our patient subsequently went under right-sided VATS with upper lobe resection/bleb resection, mechanical pleurodesis, and complete pleurectomy. Pathology showed lung tissue with emphysematous changes, subpleural blebs, and fibroelastotic subpleural scarring with focal calcification. In addition to these changes was eosinophil-rich inflammation in the pleura. His post-operative course was uncomplicated, and subsequently discharged. Our case demonstrates potential pulmonary complications from underlying Marfan syndrome. Marfan syndrome is typically diagnosed in younger adults rather than in the 4th decade of life, as seen in our patient. The lifetime incidence of pneumothorax is reported to be 4-14% in those with Marfan’s. Although pneumothorax is not commonly a presenting feature, it is prevalent enough to be included as a criterion for diagnosis. SSP results from bullae with predilection in the apices. Management of SSP in these cases is to prevent recurrence, in addition to tube thoracostomy placement. Although there is a lack of data in adults, the incidence of recurrent pneumothorax if conservative measures are pursued initially in adolescents can be as high as 78%; therefore, definitive surgical management is recommended initially in those with Marfan’s. The surgical approach should include VATS with wedge resection, and bullectomy should be performed as bullae are the likely cause of SSP if identified. This abstract is funded by: None
Haider et al. (Fri,) studied this question.