A Case Report of Bilateral Pneumothorax Associated with Marfan Syndrome

Abstract

Marfan syndrome is an inherited autosomal dominant multisystem connective tissue disorder that is the most common form of syndromic heritable thoracic aortic aneurysm disease which commonly involves skeletal, cardiovascular, and ocular systems with less frequent involvement of the pulmonary system. Here we report a case of 17 years old male patient who presented with sudden onset shortness of breath over the last 12 hours. The patient was tall, thin built with long slender fingers. There were absent breath sounds over both sides of his chest with resonant notes on percussion. Chest X-Ray confirmed the presence of bilateral pneumothorax consistent with the clinical finding. Intercostal Chest Drain (ICD) insertion was done. Marfan syndrome was diagnosed. Computed tomography angiogram revealed focal ectasia at the distal arch of the aorta just proximal to the descending aorta measuring 3 cm in diameter without any aortic regurgitation on transthoracic echocardiography. This case suggests that spontaneous pneumothorax could be a pointer towards as well as an initial presentation of inherited connective tissue disorder like MARFAN syndrome.