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Background: Surgical replacement of the aortic root is the only intervention that can prevent aortic dissection and cardiovascular death in Marfan syndrome (MFS). However, in some individuals, MFS also causes sleep apnea. If sleep apnea predicts cardiovascular death, a new target for predictive, preventive, and personalized medicine (PPPM) may emerge for those individuals with MFS who have sleep apnea. Methods: This is an investigator-initiated study with long-term follow-up data of 105 individuals with MFS. All individuals were screened for sleep apnea regardless of symptoms. Cardiovascular death served as a primary endpoint, and aortic events as a secondary outcome. Results: Sleep apnea with an apnea–hypopnea index (AHI) > 5/h was observed in 21.0% (22/105) with mild sleep apnea in 13% (14/105) and moderate to severe sleep apnea in 7.6% (8/105). After a median follow-up of 7.76 years (interquartile range: 6.84, 8.41), 10% (10/105) had died, with cardiovascular cause of death in 80% (8/10). After adjusting for age and body mass index (BMI), the AHI score emerged as an independent risk factor for cardiovascular death (hazard ratio 1.712, 95% confidence interval [1.061–2.761], p = 0.0276). The secondary outcome of aortic events occurred in 33% (35/105). There was no effect of the AHI score on aortic events after adjusting for age and BMI (hazard ratio 0.965, 95% confidence interval [0.617–1.509]), possibly due to a high number of patients with prior aortic surgery. Interpretation: Sleep apnea is emerging as an independent predictor of cardiovascular death in MFS. It seems mandatory to screen all individuals with MFS for sleep apnea and to include these individuals, with both MFS and sleep apnea, in further studies to evaluate the impact of preventive measures with regard to cardiovascular death. [ABSTRACT FROM AUTHOR]

Due to the importance of arousals for the interpretation of sleep wake disturbances, origin and meaning, methodological aspects and clinical relevance are discussed. There exist multiple entero- and exteroceptive arousal stimuli followed by EEG, autonomic and behavioral arousals. Also in pediatric sleep medicine the analysis of arousals is of great importance, because disturbances of the arousal mechanism can play a causal role for life threatening events or daytime somnolence. Despite clear criteria for the diagnosis of arousals (ASDA) there exists a certain interrater variability leading to different evaluation of sleep fragmentation. Automatic computer analysis offers no alternative: the results should always be controlled and eventually corrected by trained experts. In the last years the detection rate of respiratory events with consecutive EEG arousals was improved by non invasive methods as measurement of pressure with nasal prongs, impedance or effort/phase angle. The registration of pulse- transit-time and continously measured blood pressure allows to quantify autonomic arousals. By examples of different diseases as obstructive sleep apnea, central sleep apnea, chronic obstructive lung disease, periodic movement during sleep, psychophysiological insomnias, epilepsy, parasomnias and hypersonmias the effects of arousals are discussed. Additionally to arousals further... [ABSTRACT FROM AUTHOR]