Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome

Abstract

Background Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features. Obstructive sleep apnea (OSA) in MFS has been described earlier but the prevalence and its relation with the cardiovascular risk is still controversial. This study aimed to further investigate these aspects. Methods In this prospective longitudinal study, we performed an attended polysomnography in 40 MFS patients (60% women, 37 ± 12.8 years) and evaluated several cardiovascular parameters through echocardiography, resting electrocardiogram, 24 hr‐Holter monitoring and serum NT‐ProBNP measurements. Results We found that OSA was present in 42.5% of the patients and that higher body mass index was the most important factor associated with the presence of OSA. We observed that overweight was present in 27.5% of the patients in the whole cohort and in 55.6% if >40 years. Furthermore, when evaluating the impact of OSA on the cardiovascular system, we observed that patients with OSA tended to have higher systolic blood pressure, larger distal aortic diameters and a higher prevalence of ventricular arrhythmia. These differences were, however, not significant after adjusting for confounders. Conclusions Our study shows a high prevalence of OSA and a high prevalence of overweight in MFS patients. We found some trends between OSA and cardiovascular features but we could not establish a solid association. Our study, however might be underpowered, and a multicenter collaborative study could be very useful to answer some important open questions.

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

“…Detection of sleep apnea through a questionnaire is cumbersome because there is a poor correlation between the score and the presence of sleep apnea. In our experience, the STOP-bang questionnaire seems to have the best positive predictive value [205].…”

“…The obstructive episodes can be explained by the characteristic facial features (retrognathia, malar hypoplasia, dolichocephaly) in combination with higher airway collapsibility [203,204]. Furthermore, patients with a high body mass index seem to have higher prevalence of obstructive sleep apnea [201,202,205]. Why patients with Marfan syndrome present central sleep apnea is not clear, but it may be related to impaired left ventricular function in some patients, and autonomic system dysregulation in others [202,205].…”

“…Furthermore, patients with a high body mass index seem to have higher prevalence of obstructive sleep apnea [201,202,205]. Why patients with Marfan syndrome present central sleep apnea is not clear, but it may be related to impaired left ventricular function in some patients, and autonomic system dysregulation in others [202,205]. Detection of sleep apnea through a questionnaire is cumbersome because there is a poor correlation between the score and the presence of sleep apnea.…”

“…Individuals with sleep apnea that is unrelated to Marfan syndrome appear to have a higher cardiovascular risk, showing a higher prevalence of hypertension, stroke, and arrhythmia [206][207][208][209][210]. Higher systolic blood pressure and higher prevalence of ventricular arrhythmia were mildly associated with sleep apnea in Marfan syndrome in one study [205] and with higher incidence of atrial fibrillation in another [202]. In the general population, the relationship between sleep apnea and aortic diameters is less-well studied and the findings are inconsistent [211][212][213][214].…”

“…In the general population, the relationship between sleep apnea and aortic diameters is less-well studied and the findings are inconsistent [211][212][213][214]. Similarly, in Marfan syndrome patients the relation between sleep apnea and aortic root growth is debated: while some studies find an association [201,215], others fail to do so [202,205]. The influence of sleep apnea in other organ systems and in the quality of life has not been studied in Marfan syndrome but could be very relevant.…”