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

Abstract

This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. AbstractBackground: 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. K E Y W O R D Sconnective tissue disorder, screening accuracy, SDB, surveys 2 of 9 | SOWHO et al.

Snoring and aortic dimension in Marfan syndrome

“…A previous study demonstrated that the proportion of snoring breaths during sleep was a predictor of OSA in the general population [ 13 ]. Our study confirms this finding in persons with MFS, a genetic disorder characterized by aortic pathology [ 4 , 14 , 15 ] and sleep disordered breathing [ 1 – 3 ]. Our results further reveal that a 1-unit increase in snoring breaths percentage confers a 5% higher likelihood of OSA, and that a 10-unit increase in snoring breaths percentage associates with a 1 mm increase in aortic root diameter.…”

“…Thirty consecutive MFS patients who reported habitual snoring were recruited from the Johns Hopkins Vascular Connective Tissue Disorders Clinic and the Marfan Foundation. Participants completed a packet of sleep disordered breathing questionnaires including the STOP-BANG, Berlin questionnaire and the Epworth sleepiness scale (ESS) [ 1 , 8 , 9 ], and also provided contemporaneous aortic information verified with their medical records. All participants underwent overnight in-laboratory polysomnography, but one recording was excluded because participant’s sleep time was less than 2 h, thus data were not adequate for our analyses.…”

“…Snoring and associated obstructive sleep apnea (OSA) are highly prevalent in persons with Marfan syndrome (MFS) [ 1 – 3 ], a genetic disorder that compromises connective tissue leading to thoracic aortic aneurysms and eventual dissection or rupture [ 4 , 5 ]. We recently reported that accumulated nocturnal exposure to snoring increases cardiovascular stress in MFS persons [ 6 ].…”

Association of sleep apnoea risk and aortic enlargement in Marfan syndrome

“…We recently demonstrated accurate OSA screening in persons with MFS who had home sleep studies using the STOP-BANG questionnaire. 33 As shown in this study, screening with the STOP-BANG questionnaire could serve as a simple means to stratify MFS persons for sleep phenotypes that might impact cardiovascular status. We do not believe that a high OSA risk finding with the STOP-BANG replaces a valid sleep study; instead we believe that this screening approach may provide a persuasive rationale for obtaining formal sleep studies in patients with MFS who present with atypical symptoms.…”

Marfan syndrome

“…[7][8][9][10][11] A mutation in the recessive FBN1 gene-a component of elastic and nonelastic tissues-is a typical finding in MFS; however, some patients may lack the gene completely resulting in severe signs and symptoms. 12,13 Up to 10% of people with the MFS phenotype do not have the FBN1 mutation but have alterations in the transforming growth factor-beta receptor 2 (TGFBR2) and TGFBR1. 13 These mutations are linked to two other syndromes: Loeys-Dietz syndrome (LDS) or familial thoracic aortic aneurysm (FTAA) syndromes; some experts believe patients with MFS phenotype should be treated as LDS, which has severe complications.…”