A Case of Marfan Syndrome Presenting as Tension Pneumothorax in A Tertiary Care Setup

Abstract

Marfan Syndrome is a rare connective tissue condition that affects several systems, including musculoskeletal, cardiovascular and ocular systems. Although less frequent, pulmonary involvement can nevertheless lead to emphysema, bullae, apical blebs, and a higher risk of spontaneous pneumothorax. Another option is pectus excavatum, carinatum, or scoliosis-related restrictive lung disease. We will discuss a case of 18 year old girl, with marfanoid habitus, non-smoker with history of ATT taken on radiological grounds, with complains of shortness of breath on and off and presenting with sudden onset worsening of shortness of breath and dry cough for 3 weeks. Chest x-ray showed tension pneumothorax. After emergency management echo was done and it showed MVP with MR. Patient was diagnosed as a case of Marfan Syndrome following Ghent criteria. The case indicates that pneumothorax though rare can be first presentation of Marfan Syndrome.