Risk and related factors of Marfan syndrome complicated with pneumothorax_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

WANG Yushuo ^1,2 , LIU Ting ¹ , JI Zimei ¹ , XU Shicheng ³ , LI Jian'an ⁴ ,  HU Xiaowen ¹

1. Department of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230001, P. R. China;
2. Wannan Medical College, Wuhu, Anhui 241002, P. R. China;
3. Department of Medical Imaging, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230001, P. R. China;
4. Department of Cardiovascular Surgery, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230001, P. R. China;

Corresponding author：

HU Xiaowen, Email: hu.xiaowen@hotmail.com

Keywords：

Marfan syndrome; pneumothorax; bullae; thoracic deformity

DOI：

10.7507/1671-6205.202210007

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Objective To evaluate the incidence and characteristics of spontaneous pneumothorax in patients with Marfan syndrome (MFS), and to analyze its related factors. Methods The medical record of patients with MFS who were hospitalized in the First Affiliated Hospital of University of Science and Technology of China from March 1, 2017 to December 31, 2022 were retrospectively collected, to analyze the incidence of pneumothorax and related risk factors. Results A total of 53 patients (including 29 males, 55%) were included, with a median age of 32 years (ranging from 13 to 65 years). All patients denied family history of pneumothorax. Four cases (8%) had one episode of spontaneous pneumothorax, with pulmonary bullae involved the ipsilateral apex. Among them, 3 cases (75%) had single pulmonary bulla and thoracic deformity. Of the 49 patients without previous pneumothorax history, 9 (18%) had pulmonary bullae, of which 6 (67%) were located at the apex of the lung, and the remaining 3 (33%) were in the middle and lower lobes of the lung; In addition, 6 cases (12%) were coexisted with thoracic deformity. The incidence of pneumothorax in patients with pulmonary bullae in MFS was significantly higher than those without pulmonary bullae (31% vs. 0%, P=0.002), and the incidence of pneumothorax in patients with thoracic deformities was significantly higher than those with normal thorax (33% vs. 2%, P=0.013). Of the 4 patients with pneumothorax, 2 underwent bullectomy, 1 underwent thoracic drainage, and the other underwent thoracic puncture and aspiration procedures, respectively. No recurrence of pneumothorax was observed during the follow-up period. Sixteen cases of MFS with spontaneous pneumothorax (11 males, 69%) were reported in Chinese literature, with a median age of 17 years (ranging from 13 to 28 years). Among them, 3 cases (19%) had a family history of pneumothorax, and 14 cases (88%) had thoracic deformities. Bullae was found in all 5 patients with pneumothorax, 4 of them with chest CT images involved the ipsilateral upper lobe. Forty-four percents of 16 patients had pneumothorax recurrence. Conclusions The incidence of MFS complicated with spontaneous pneumothorax is significantly higher. However, most of them have no family history of pneumothorax. The incidence of pneumothorax with MFS is associated with pulmonary bullae (especially the apex of lung) and thoracic deformity. Timely surgical intervention should be carried out when pneumothorax happened.

Citation： WANG Yushuo, LIU Ting, JI Zimei, XU Shicheng, LI Jian'an, HU Xiaowen. Risk and related factors of Marfan syndrome complicated with pneumothorax. Chinese Journal of Respiratory and Critical Care Medicine, 2023, 22(4): 256-261. doi: 10.7507/1671-6205.202210007 Copy

1.	Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome. Nat Rev Dis Primers, 2021, 7(1): 64.
2.	Groth KA, Hove H, Kyhl K, et al. Prevalence, incidence, and age at diagnosis in Marfan syndrome. Orphanet J Rare Dis, 2015, 10: 153.
3.	Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature, 1991, 352(6333): 337-339.
4.	Groth KA, Stochholm K, Hove H, et al. Causes of mortality in the Marfan syndrome (from a nationwide register study). Am J Cardiol, 2018, 122(7): 1231-1235.
5.	Karpman C, Aughenbaugh GL, Ryu JH. Pneumothorax and bullae in Marfan syndrome. Respiration, 2011, 82(3): 219-224.
6.	范永琛. 马凡氏综合征并发反复双侧张力气胸. 医师进修杂志, 1992, 15(8): 47.
7.	高连增, 刘野樵, 李滨. 马凡氏综合征并自发性气胸1例报告. 黑龙江医药, 1993, (5): 49.
8.	刘锡杰. 马凡氏综合征合并肺损害1例报告. 吉林医学, 1994, 15(3): 186-187.
9.	陶林森. 马凡氏综合征并自发性气胸2例报告. 综合临床医学, 1994, (5): 56.
10.	方向宏. 马凡综合征并发自发性气胸2例. 安徽医科大学学报, 1995, 30(2): 142.
11.	齐淑芹, 廖文召, 张建波, 等. 马凡氏综合征并自发性气胸1例. 牡丹江医学院学报, 1996, 17(3): 45-46.
12.	商鸣宇, 高元明, 高明哲, 等. 马凡综合征合并气胸一例报告. 北京医学, 2003, 25(1): 12.
13.	刘广源, 沈建雄, 邱贵兴. 马凡综合征合并脊柱侧弯术后自发性气胸一例报告. 脊柱外科杂志, 2004, 2(5): 310-313.
14.	梁延东, 黄澂. 马凡综合征并自发性气胸二例报告. 北京医学, 2005, 27(1): 24.
15.	高峰, 曲建昌. 马凡氏综合征罕见并发症1例. 临床肺科杂志, 2005, 10(4): 424.
16.	叶桃春, 孙志佳, 李京伟, 等. 反复发作性自发性气胸的马凡综合征1例. 广东医学, 2010, 31(23): 3066.
17.	林慧, 钟殿胜. 马凡综合征并发自发性气胸一例. 天津医药, 2012, 40(10): 1085+1090.
18.	赵年, 卢旭东, 夏菁, 等. 以反复气胸发作为表现的马方综合征一例并文献复习. 中国呼吸与危重监护杂志, 2015, 14(4): 392-394.
19.	王峥乔. 马凡综合症合并自发性气胸病例报道一例及文献复习. 中国医科大学, 2018.
20.	Wood JR, Bellamy D, Child AH, et al. Pulmonary disease in patients with Marfan syndrome. Thorax, 1984, 39(10): 780-784.
21.	Hall JR, Pyeritz RE, Dudgeon DL, et al. Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg, 1984, 37(6): 500-504.
22.	Sunouchi T, Watanabe Y, Tomonaga K, et al. Optimal treatment of pneumothorax in adolescents with Marfan syndrome. J Pediatr Surg, 2021, 56(7): 1103-1106.
23.	Matsumoto T, Uto K, Oda H, et al. Pleural changes in patients with pneumothoraces and Marfan syndrome. J Thorac Dis, 2020, 12(9): 4877-4882.
24.	Scott RM, Henske EP, Raby B, et al. Familial pneumothorax: towards precision medicine. Thorax, 2018, 73(3): 270-276.
25.	Hallifax RJ, Goldacre R, Landray MJ, et al. Trends in the incidence and recurrence of inpatient-treated spontaneous pneumothorax, 1968-2016. JAMA, 2018, 320(14): 1471-1480.
26.	Hu XW, Zhang GF, Chen XM, et al. Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families. Orphanet J Rare Dis, 2021, 16: 223.
27.	Gilday C, Odunayo A, Hespel AM. Spontaneous pneumothorax: pathophysiology, clinical presentation and diagnosis. Top Companion Anim Med, 2021, 45: 100563.
28.	Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat Genet, 2003, 33: 407-411.
29.	Yu J, Park J, Lee J, et al. Preoperative bullae and subsequent pneumothorax in 6605 patients who underwent robotic prostatectomy. J Anesth, 2022, 36(6): 740-746.
30.	丁文泽. 胸廓影像学测量数据与原发性自发性气胸的相关性研究. 大连医科大学, 2021.
31.	张其刚, 谭胜, 张晓峰, 等. 扁平胸廓青少年自发性气胸发病原因的生物力学研究. 中华胸心血管外科杂志, 2005, 21(3): 163-165.
32.	Parlak M, Uil SM, van den Berg JW. A prospective, randomised trial of pneumothorax therapy: manual aspiration versus conventional chest tube drainage. Respir Med, 2012, 106(11): 1600-1605.
33.	Liu YG, Xing HJ, Huang Y, et al. Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome. Eur J Cardiothorac Surg, 2020, 57: 39-45.

1. Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome. Nat Rev Dis Primers, 2021, 7(1): 64.
2. Groth KA, Hove H, Kyhl K, et al. Prevalence, incidence, and age at diagnosis in Marfan syndrome. Orphanet J Rare Dis, 2015, 10: 153.
3. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature, 1991, 352(6333): 337-339.
4. Groth KA, Stochholm K, Hove H, et al. Causes of mortality in the Marfan syndrome (from a nationwide register study). Am J Cardiol, 2018, 122(7): 1231-1235.
5. Karpman C, Aughenbaugh GL, Ryu JH. Pneumothorax and bullae in Marfan syndrome. Respiration, 2011, 82(3): 219-224.
6. 范永琛. 马凡氏综合征并发反复双侧张力气胸. 医师进修杂志, 1992, 15(8): 47.
7. 高连增, 刘野樵, 李滨. 马凡氏综合征并自发性气胸1例报告. 黑龙江医药, 1993, (5): 49.
8. 刘锡杰. 马凡氏综合征合并肺损害1例报告. 吉林医学, 1994, 15(3): 186-187.
9. 陶林森. 马凡氏综合征并自发性气胸2例报告. 综合临床医学, 1994, (5): 56.
10. 方向宏. 马凡综合征并发自发性气胸2例. 安徽医科大学学报, 1995, 30(2): 142.
11. 齐淑芹, 廖文召, 张建波, 等. 马凡氏综合征并自发性气胸1例. 牡丹江医学院学报, 1996, 17(3): 45-46.
12. 商鸣宇, 高元明, 高明哲, 等. 马凡综合征合并气胸一例报告. 北京医学, 2003, 25(1): 12.
13. 刘广源, 沈建雄, 邱贵兴. 马凡综合征合并脊柱侧弯术后自发性气胸一例报告. 脊柱外科杂志, 2004, 2(5): 310-313.
14. 梁延东, 黄澂. 马凡综合征并自发性气胸二例报告. 北京医学, 2005, 27(1): 24.
15. 高峰, 曲建昌. 马凡氏综合征罕见并发症1例. 临床肺科杂志, 2005, 10(4): 424.
16. 叶桃春, 孙志佳, 李京伟, 等. 反复发作性自发性气胸的马凡综合征1例. 广东医学, 2010, 31(23): 3066.
17. 林慧, 钟殿胜. 马凡综合征并发自发性气胸一例. 天津医药, 2012, 40(10): 1085+1090.
18. 赵年, 卢旭东, 夏菁, 等. 以反复气胸发作为表现的马方综合征一例并文献复习. 中国呼吸与危重监护杂志, 2015, 14(4): 392-394.
19. 王峥乔. 马凡综合症合并自发性气胸病例报道一例及文献复习. 中国医科大学, 2018.
20. Wood JR, Bellamy D, Child AH, et al. Pulmonary disease in patients with Marfan syndrome. Thorax, 1984, 39(10): 780-784.
21. Hall JR, Pyeritz RE, Dudgeon DL, et al. Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg, 1984, 37(6): 500-504.
22. Sunouchi T, Watanabe Y, Tomonaga K, et al. Optimal treatment of pneumothorax in adolescents with Marfan syndrome. J Pediatr Surg, 2021, 56(7): 1103-1106.
23. Matsumoto T, Uto K, Oda H, et al. Pleural changes in patients with pneumothoraces and Marfan syndrome. J Thorac Dis, 2020, 12(9): 4877-4882.
24. Scott RM, Henske EP, Raby B, et al. Familial pneumothorax: towards precision medicine. Thorax, 2018, 73(3): 270-276.
25. Hallifax RJ, Goldacre R, Landray MJ, et al. Trends in the incidence and recurrence of inpatient-treated spontaneous pneumothorax, 1968-2016. JAMA, 2018, 320(14): 1471-1480.
26. Hu XW, Zhang GF, Chen XM, et al. Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families. Orphanet J Rare Dis, 2021, 16: 223.
27. Gilday C, Odunayo A, Hespel AM. Spontaneous pneumothorax: pathophysiology, clinical presentation and diagnosis. Top Companion Anim Med, 2021, 45: 100563.
28. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat Genet, 2003, 33: 407-411.
29. Yu J, Park J, Lee J, et al. Preoperative bullae and subsequent pneumothorax in 6605 patients who underwent robotic prostatectomy. J Anesth, 2022, 36(6): 740-746.
30. 丁文泽. 胸廓影像学测量数据与原发性自发性气胸的相关性研究. 大连医科大学, 2021.
31. 张其刚, 谭胜, 张晓峰, 等. 扁平胸廓青少年自发性气胸发病原因的生物力学研究. 中华胸心血管外科杂志, 2005, 21(3): 163-165.
32. Parlak M, Uil SM, van den Berg JW. A prospective, randomised trial of pneumothorax therapy: manual aspiration versus conventional chest tube drainage. Respir Med, 2012, 106(11): 1600-1605.
33. Liu YG, Xing HJ, Huang Y, et al. Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome. Eur J Cardiothorac Surg, 2020, 57: 39-45.

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