The prevalence of obstructive sleep apnea and its association with cardiovascular diseases in Marfan’s syndrome children: the state of the art and the early orthodontic treatment

Abstract

Obstructive sleep apnea (OSA) is a sleep disorder that involves a cessation or a significant decrease in airflow in the presence of breathing effort. It is the most common type of sleep-disordered breathing and it is characterized by recurrent episodes of upper airway collapse during sleep. Several studies have documented a higher prevalence of OSA among patients with Marfan's syndrome (MFS), which has been associated with abnormalities in maxillary morphology and craniofacial structures, and abnormally high collapsibility of the connective tissue. There is an association between OSA and vascular disease. From the complex physiological changes that actually occur during OSA and the results obtained from animal models and laboratory-based studies in recent years, plausible hypotheses have been given to link OSA with vascular disease. Intermittent hypoxia, the intermittent arousal from sleep and increased intrathoracic pressure swings are these plausible hypotheses, however, the only mechanism supported by randomized controlled trials (RCTs) able to explain the associations observed between OSA and vascular disease is the increased sympathetic nervous system activity. The aortic dilation, the associated aortic dissection, and the subsequent rupture are still the main cause of morbidity and mortality in MFS patients. The identification of any treatable risk factor for aortic complications in MFS subjects is thus of major scientific and clinical interest. There is some preliminary evidence that OSA may be a risk factor for the development and progression of aortic aneurysms in patients with and without Marfan's syndrome. In literature, it was recently reported that the severity of OSA in MFS subjects is associated with an increased aortic root diameter and that MFS patients with OSA, have a significantly shorter aortic event-free survival than MFS patients without OSA. Furthermore, the skeletal class II malocclusion with mandibular retrognathia and correlated increased overjet has long been recognized to be not only the most typical malocclusion of MFS children but also a significant risk factor for OSA development in all patients. From this overview followed the research of an early orthodontic treatment aimed at the reduction of risk factors for the development of OSA in this particular population. The rapid maxillary expansion and mandibular advancement significantly improved the airway patency and reduced the frequency of apneas in MFS children.