The prevalence of obstructive sleep apnea (OSA) is increased in children and adults with Marfan syndrome (MFS) compared to the general population and has been shown to be associated with rapid aortic root dilation and dissection in adults. Early diagnosis and treatment of OSA may decrease long-term cardiac morbidity. We therefore studied the utility of noninvasive OSA screening tools in children with MFS. We hypothesized that youth with MFS would have higher OSA screening scores than the general pediatric population. Subjects with confirmed MFS were recruited from a single pediatric center. Data collected included cardiac history, retrospective polysomnogram (PSG) data, and prospectively collected Pediatric Sleep Questionnaire (SRBD-PSQ) and Epworth Sleepiness Scale (ESS-CHAD) scores. Fifty-one individuals aged 2-21 years old were identified. Nineteen subjects completed the surveys, 53% female, median age 16 years. Of those that completed the survey, mean SRBD-PSQ score was 0.24 ± 0.21 and mean ESS-CHAD was 6.4 ± 3.7. Comparatively, published normative data for pediatric control subjects were 0.24 ± 0.21 for SRBD-PSQ and 5.4 ± 3.7 for ESS-CHAD. In conclusions, youth with MFS had similar OSA screening scores compared to published pediatric controls. Given these findings and high prevalence of OSA in MFS youth, standard questionnaires may not be an appropriate tool for identifying children at risk for OSA in this population. In the absence of evidence-based guidelines, physicians caring for children with MFS should consider referral for PSG, even in the absence of classic symptoms.
Keywords: Aortic root dilation; Marfan syndrome; Obstructive sleep apnea; Pediatric; Pediatric sleep questionnaire (PSQ); Polysomnogram (PSG).