Chen, Xianmeng

Spontaneous pneumothorax (SP) is defined by the presence of air in the pleural space arising from neither trauma nor iatrogenic causes. It can develop secondary to various etiologies. The familial clustering observed in some patients with SP supports the view that genetic factors play a role in the pathogenesis of SP. Several recognizable pneumothorax-associated genetic syndromes exist, including Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex-associated lymphangioleiomyomatosis (TSC-LAM), Marfan syndrome (MFS), cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), vascular Ehlers-Danlos syndrome (vEDS), Loeys-Dietz syndrome (LDS), and a few others. Recognition of these syndromes underlying SP facilitates optimal management and counseling regarding prognosis and potential comorbidities. In this review, we systematically summarize several genetic syndromes associated with pneumothorax, in which SP may manifest either as an initial presenting symptom or as a potential complication that adversely affects the prognosis.