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 prevalent disorder characterized by repetitive events of collapse and reopening of the upper airway during sleep. Several studies have documented a higher prevalence of OSA among patients with Marfan’s syndrome (MFS), which has been associated to abnormalities in maxillary morphology, craniofacial structure, and abnormally high collapsibility of the connective tissue. There is clearly an association between OSA and vascular disease. Much vascular disease remains unexplained even after allowing for well-known risk factors, such as hypertension and dyslipidaemia and, because OSA is common, it certainly could provide a significant extra contribution. In recent years plausible hypotheses have been advanced to link OSA with vascular disease, derived from the complex physiological changes that actually occur during OSA, and supported by animal models and laboratory-based studies; these include intermittent hypoxia, intermittent arousal from sleep and increased intrathoracic pressure swings. The link between these consequences of OSA and vascular disease are probably multifactorial, most likely augmented sympathetic activity, with less evidence for oxidative stress, systemic inflammation, and vibration damage to the carotid arteries. Aortic dilatation and associated aortic dissection and rupture are still the main cause of morbidity and mortality in patients with MFS. Identification of any treatable risk factor for aortic complications in patients with MFS 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 MFS. Recently was reported in literature that the severity of OSA in subjects with MFS is associated with an increased aortic root diameter and that patients with MFS and OSA had a significantly shorter aortic event-free survival than MFS patients without OSA. From this overview followed the research of an early orthodontic treatment for MFS children with the aim of reducing the risk factors, such as skeletal class II malocclusion with mandibular retrognathia and reduced sizes of the airways, for OSA development in this particular population. The rapid maxillary expansion and the mandibular advancement improved significantly the airway patency and reduced the number of apneas in MFS children.