Abstract

HISTORY: A 20 year old male collegiate sprinter initially presented to a team trainer with acute dyspnea warming up at a track meet. Symptoms were worsened with exertion and decreased with rest. He was held from competition and ultimately represented with worsening dyspnea two days after onset. He denied cough, chest pain, syncope, fevers and chills. Personal and family history was negative for joint hypermobility, hernia, ocular, pulmonary or cardiac disease. PHYSICAL EXAMINATION: Examination by the team physician revealed normal vital signs. No cervical lymphadenopathy. Palate was arched but uvula normal. Trachea was deviated to the left. Cardiac exam revealed normal S1, S2 without murmurs, rubs, or gallops. Breath sounds were normal on the left but decreased and hyper-resonant on the right. Musculoskeletal exam was negative for scoliosis but notable for tall stature, mild pectus carinatum, pes planus, and arachnodactyly. Skin exam normal. Neurologically intact. DIFFERENTIAL DIAGNOSIS: 1. Idiopathic spontaneous pneumothorax 2. Secondary spontaneous pneumothorax (e.g. secondary to connective tissue disorder) 3. Reactive airway disease 4. Respiratory infection 5. Pneumomediastinum TEST AND RESULTS: Chest x-ray revealed large right pneumothorax with a small pneumomediastinum and slight left shift of the mediastinum. FINAL WORKING DIAGNOSIS: Spontaneous Right Pneumothorax TREATMENT AND OUTCOMES: 1. The athlete was transported to the emergency department where chest tube was placed. The pneumothorax proved refractory to chest tube decompression. He underwent right video assisted thoracoscopy (VATS) with wedge resection and mechanical pleurodesis. 2. Given the phenotypic features noted on musculoskeletal exam and spontaneous pneumothorax, cardiac MRI was obtained to evaluate for Marfan syndrome. MRI revealed aortic root size at the upper limit of normal. 3. Three months status post VATS, the athlete was cleared to return to full activity with no restrictions. 4. The athlete was followed with annual transthoracic echocardiogram for surveillance of aortic root size in the setting of suspected Marfan syndrome. 5. The athlete remained stable from a cardiorespiratory standpoint, but suffered a right Achilles tendon rupture requiring operative repair one year after the pneumothorax.

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