Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires

Mudiaga O. Sowho, Susheel Patil, Hartmut Schneider, Gretchen MacCarrick, Jason P. Kirkness, Lisa F. Wolfe, Laura Sterni, Peter A. Cistulli, Enid R. Neptune

Research output: Contribution to journalArticlepeer-review


Background: 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. Methods: 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-operating characteristic curve analyses. Results: The prevalence of moderate-severe SDB was 32% in our sample of 31 MFS participants. The Stop-Bang questionnaire had the highest positive predictive value (PPV) of 60% and the highest negative predictive value (NPV) of 100% using the high- and moderate-risk cut-offs, respectively, and the Berlin questionnaire had a PPV of 50% and an NPV of 92.3% at the high-risk cut-off. When those with mild SDB were included, the Stop-Bang 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-risk cut-offs. Conclusion: 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.

Original languageEnglish (US)
Article numbere1039
JournalMolecular Genetics and Genomic Medicine
Issue number1
StatePublished - Jan 1 2020


  • SDB
  • connective tissue disorder
  • screening accuracy
  • surveys

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires'. Together they form a unique fingerprint.

Cite this