Background: Increased risk of spontaneous pneumothorax has been described in patients with Marfan syndrome and has been attributed, in part, to the presence of apical blebs and bullae. Objectives: We assess the risk of pneumothorax and its relationship to the presence of apical blebs and bullae in patients with Marfan syndrome in the era of CT imaging. Methods: A retrospective cohort study was performed of all patients 13 years or older with Marfan syndrome evaluated at the Mayo Clinic, Rochester, Minn., USA, from 1998 through 2008. One hundred and sixty-six patients met the current diagnostic criteria for Marfan syndrome and had chest imaging studies available for review. Results: The median age was 40 years (range 14–71); 37% had a smoking history. Eight of 166 patients (4.8%) had experienced 1 or more episodes of spontaneous pneumothorax, and 2 of these 8 patients had 2 or more episodes. Apical blebs or bullae were identified on radiologic imaging in 16 patients (9.6%). Four of 16 (25%) patients with apical blebs or bullae had a history of spontaneous pneumothorax compared to 4 of 150 patients (2.7%) without blebs or bullae (p = 0.003). Conclusions: The frequency of blebs is relatively low in patients with Marfan syndrome but the risk of pneumothorax is significantly higher in those with radiologically detectable blebs or bullae. Chest CT scanning to identify blebs and bullae may allow risk stratification for pneumothorax in patients with Marfan syndrome.

Keywords:
Pneumothorax, Marfan syndrome, Bullous diseases
1.
Judge DP, Dietz HC: Marfan’s syndrome. Lancet 2005;366:1965–1976.
2.
Ramirez F, Dietz HC: Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev 2007;17:252–258.
3.
Tanoue LT: Pulmonary involvement in collagen vascular disease: a review of the pulmonary manifestations of the Marfan syndrome, ankylosing spondylitis, Sjogren’s syndrome, and relapsing polychondritis. J Thorac Imaging 1992;7:62–77.
4.
Dwyer EM, Troncale F: Spontaneous pneumothorax and pulmonary disease in the Marfan syndrome. Report of two cases and review of the literature. Ann Intern Med 1965;62:1285–1292.
5.
Hall JR, Pyeritz RE, Dudgeon DL, Haller JA: Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg 1984;37:500–504.
6.
Streeten EA, Murphy EA, Pyeritz RE: Pulmonary function in the Marfan syndrome. Chest 1987;91:408–412.
7.
Wood JR, Bellamy D, Child AH, Citron KM: Pulmonary disease in patients with Marfan syndrome. Thorax 1984;39:780–784.
8.
DePaepe A, Devereux RB, Deitz HC, Heinnekam RCM, Pyeritz RE: Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417–426.
9.
Hansell DM, Bankier AA, MacMahon TC, McLoud TC, Muller NL, et al: Fleischner Society: glossary of terms for thoracic imaging. Radiology 2008;246:697–722.
10.
Amjadi K, Alvarez GG, Vanderhelst E, Velkeniers B, Lam M, et al: The prevalence of blebs or bullae among young healthy adults: a thoracoscopic investigation. Chest 2007;132:1140–1145.
11.
Lesur O, Delorme N, Formaget JM, Bernadac P, Polu JM: Computed tomography in the etiologic assessment of idiopathic spontaneous pneumothorax. Chest 1990;98:341–347.
12.
Bense L, Lewander R, Eklund G, Hedenstierna G, Wiman LG: Nonsmoking, non-apha1-antrypsin deficiency-induced emphysema in nonsmokers with healed spontaneous pneumothorax, identified by computed tomography of the lungs. Chest 1993;103:433–438.
13.
Noppen M, De Keukeleire T: Pneumothorax. Respiration 2008;76:121–127.
14.
Dean JCS: Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 2007;15:724–733.
15.
Dietz HC: Marfan syndrome. National Center for Biotechnology Information, 2009. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan.
16.
Schramel FM, Postmus PE, Vanderschueren RG: Current aspects of spontaneous pneumothorax. Eur Respir J 1997. 10:1372–1379.
17.
Schramel FM, Zanen P: Blebs and/or bullae are of no importance and have no predictive value for recurrences in patients with primary spontaneous pneumothorax. Chest 2001;119:1976–1977.
18.
Smit HJ, Golding RP, Schramel FM, Deville WL, Manoliu RA, Postmus PE: Lung density measurements in spontaneous pneumothorax demonstrate airtrapping. Chest, 2004;125:2083–2090.
19.
Noppen M, Dekeukeleire T, Hanon S, Stratakos G, Amjadi K, et al: Fluorescein-enhanced autofluorescence thoracoscopy in patients with primary spontaneous pneumothorax and normal subjects. Am J Respir Crit Care Med 2006;174:26–30.
20.
Dwyer EM Jr, Troncale F: Spontaneous pneumothorax and pulmonary disease in the Marfan syndrome. Report of two cases and review of the literature. Ann Intern Med 1965;62:1285–1292.
21.
Sayers CP, Goltz RW, Mottiaz J: Pulmonary elastic tissue in generalized elastolysis (cutis laxa) and Marfan’s syndrome: a light and electron microscopic study. J Investig Dermatol 1975;65:451–457.
22.
Dominguez R, Weisgrau RA, Santamaria M: Pulmonary hyperinflation and emphysema in infants with the Marfan syndrome. Pediatr Radiol 1987;17:365–369.
23.
Robbesom AA, Koenders MM, Smits NC, Hafmans T, Versteeg EM, et al: Aberrant fibrillin-1 expression in early emphysematous human lung: a proposed predisposition for emphysema. Mod Pathol 2008;21:297–307.
© 2011 S. Karger AG, Basel
2011
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.