Characteristics And Related Factors Of Marfan Syndrome Complicated By Spontaneous Pneumothorax

Objective: To evaluate the incidence of spontaneous pneumothorax in patients with Marfan syndrome(MFS),summarize its clinical characteristics and analyze its related factors.Methods: The data of inpatients with MFS over 13 years old from March 1,2017 to December 31,2022 in the First Affiliated Hospital of the University of Science and Technology of China were collected retrospectively,and the clinical characteristics and related factors of spontaneous pneumothorax were analyzed by comparing with previous studies.Results: A total of 53 patients(29 male,55%)with a median age of 32 years(range13-65 years)were included,all of whom had chest CT available for evaluation.Four patients(8%)had one previous episode of spontaneous pneumothorax,and all were found to have bullae in the ipsilateral lung apex.Three(75%)had single lung bullae with thoracic deformity.Of the 49 patients with no previous pneumothorax,9(18%)had bullae,of which 6(67%)were located in the apical lung and the remaining 3 were in the middle and lower lobes(33%);In addition,there were associated thoracic deformities in 6 cases(12%).The frequency of pneumothorax was significantly higher in patients with MFS with pulmonary bullae than in patients without bullae(31% vs.0%,P = 0.002)and in patients with thoracic deformity than in patients with a normal thorax(33% vs.2%,P=0.013).Of the 4 pneumothorax patients,2 underwent bullectomy,1underwent closed chest drainage,and the other underwent thoracentesis and aspiration,none of which recurred during follow-up.A total of 19 MFS patients with spontaneous pneumothorax(including 14 males,74%)with a median age of 17 years(range,13-42years)were included in the previous literature review with 17 case reports in China.Three(16%)had a clear family history of pneumothorax and 16(84%)had combined thoracic deformities.Bullae were found in a total of 7(37%)patients with pneumothorax(4 diagnosed by CT and 3 by chest radiograph),and in 6 patients,bullae were all located in the upper lobe ipsilateral to the pneumothorax.Pneumothorax recurrence was present in 8(42%)of 19 patients but was reported in only 1(33%)of 3patients who underwent surgical intervention.Conclusion: MFS is complicated by a significantly higher incidence of spontaneous pneumothorax and the lack of a family history of pneumothorax in most patients leads to missed diagnosis,the onset of which is associated with bullae(especially in the lung apex)and thoracic deformity,and prompt surgical intervention should be performed to reduce recurrence after the occurrence of pneumothorax.