{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,31]],"date-time":"2025-08-31T23:31:19Z","timestamp":1756683079017,"version":"3.41.2"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,10]],"date-time":"2019-11-10T00:00:00Z","timestamp":1573344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010258","name":"Marfan Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010258","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A high prevalence of sleep disordered breathing (SDB) has been reported in persons with Marfan syndrome (MFS), a single gene disorder of connective tissue resulting in premature death from aortic rupture. The burden of SDB and accompanying hemodynamic stress could warrant broad screening in this population. Our goal was to assess the utility of traditional SDB screening tools in our sample of persons with MFS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Participants were recruited during an annual Marfan Foundation meeting and Marfan status confirmed using the Ghent criteria. Screening questionnaires were administered and SDB assessed by home sleep testing. We assessed accuracy of screening tools using receiver\u2010operating characteristic curve analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The prevalence of moderate\u2010severe SDB was 32% in our sample of 31 MFS participants. The Stop\u2010Bang questionnaire had the highest positive predictive value (PPV) of 60% and the highest negative predictive value (NPV) of 100% using the high\u2010 and moderate\u2010risk cut\u2010offs, respectively, and the Berlin questionnaire had a PPV of 50% and an NPV of 92.3% at the high\u2010risk cut\u2010off. When those with mild SDB were included, the Stop\u2010Bang and the Sleep Apnea Clinical Score (SACS) questionnaires demonstrated useful screening accuracies with PPVs of 94.7% and 92.9%, and NPVs of 63.6% and 47.1%, respectively, at the moderate\u2010risk cut\u2010offs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A survey of SDB in a sample of persons with MFS reveals not only a high burden of SDB but also that conventional screening instruments have utility if adapted appropriately. Future studies should validate the utility of these screening tools given concerns that SDB may contribute to progression of aortic pathology in MFS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1039","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T00:33:24Z","timestamp":1573432404000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3946-0605","authenticated-orcid":false,"given":"Mudiaga O.","family":"Sowho","sequence":"first","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine Johns Hopkins School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susheel","family":"Patil","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine Johns Hopkins School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine Johns Hopkins School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gretchen","family":"MacCarrick","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason P.","family":"Kirkness","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine Johns Hopkins School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa F.","family":"Wolfe","sequence":"additional","affiliation":[{"name":"Pulmonary Division Northwestern University Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Sterni","sequence":"additional","affiliation":[{"name":"Eudowood Division of Pediatric Respiratory Sciences Johns Hopkins School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Cistulli","sequence":"additional","affiliation":[{"name":"Charles Perkins Centre Faculty of Medicine and Health University of Sydney Sydney NSW Australia"},{"name":"Department of Respiratory Medicine Royal North Shore Hospital Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enid R.","family":"Neptune","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine Johns Hopkins School of Medicine Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,10]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"AASM Manual for the Scoring of Sleep and Associated Events; Version 2.3. 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