Prevalence and Predictors of Pneumothorax in Patients with Connective Tissue Disorders Enrolled in the GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry. J. P. Habashi1, G. L. Oswald2, K. W. Holmes1,5, E. M. Reynolds10, S. LeMaire3, W. Ravekes1, N. B. McDonnell4, C. Maslen5, R. V. Shohet6, R. E. Pyeritz7, R. Devereux8, D. M. Milewicz9, H. C. Dietz2, GenTAC Registry Consortium 1) Dept Pediatric Cardiology, Johns Hopkins Univ, Baltimore, MD; 2) Dept. Medical Genetics, Johns Hopkins Univ, Baltimore, MD; 3) Baylor College of Medicine, Houston TX; 4) NIA at Harbor Hospital, Baltimore, MD; 5) Oregon Health & Science University, Portland, OR; 6) Queen's Medical Center, Honolulu, HI; 7) The University of Pennsylvania, Philadelphia, PA; 8) Weill Cornell Medical College of Cornell University, New York NY; 9) University of Texas Medical School at Houston, Houston, TX; 10) University of Maryland, Baltimore, MD.
Spontaneous pneumothoraxdescribed as escape of air into the pleural space surrounding the lung in the absence of traumatic injuryis a rare occurrence in the general population (0.1-0.5%), however is well recognized in Marfan syndrome (MFS)(4-5%). Associations between pneumothorax and other connective tissue disorders (CTDs) are less well recognized. We sought to examine potential associations of pneumothorax with MFS, vascular Ehlers-Danlos syndrome (vEDS) and other CTDs. Phenotypic data were analyzed on all GenTAC patients with confirmed diagnoses of MFS, vEDS, Loeys-Dietz syndrome (LDS), bicuspid aortic valve with aortic enlargement (BAVe) or familial thoracic aortic aneurysm and dissection (FTAAD) to assess the prevalence of pneumothorax and associated features (1918 total pts). Of 695 patients with Ghent criteria-confirmed MFS, 73 had experienced a spontaneous pneumothorax (prevalence 10.5%), higher than reported in the literature. The frequency of pneumothorax in vEDS patients (16/107, 15%) was similar to the frequency in the MFS group. The prevalences of pneumothorax in LDS (4/73, 5.5%), FTAAD (13/237, 5.5%), and BAVe (19/806, 2.4%) were significantly less than that for MFS and vEDS (p<0.001), yet greater than reported for the general population. In MFS patients with a pneumothorax, there was a three-fold increase in reported skeletal features of pectus carinatum, pectus excavatum, scoliosis and/or kyphosis compared to those without pneumothorax. Similarly, in vEDS, there was a four-fold increase in pectus carinatum, scoliosis and kyphosis in those patients with a pneumothorax compared to those without pneumothorax. In a subset of patients with self-reported data (n=846), smoking was not associated with increased prevalence of pneumothorax. Gender was not a predictor of pneumothorax in any of the diagnostic categories analyzed despite literature reports of increased prevalence in males. In patients enrolled in the GenTAC registry with a diagnosis of MFS, vEDS, BAVe, FTAAD or LDS, the prevalence of pneumothorax was significantly increased in all CTDs analyzed as compared to the general population. The prevalence of pneumothorax was significantly higher in patients with MFS or vEDS than in the other CTDs. These data suggest that skeletal features may be a predictor for pneumothorax. Patients presenting with a spontaneous pneumothorax should be evaluated for several potential CTDs; such an evaluation could unmask an undiagnosed aortic aneurysm.
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