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.
