Efficacy of an oral appliance in an adult Marfan syndrome patient with obstructive sleep apnea

Abstract

Marfan’s syndrome (MFS) is an autosomal dominant disorder that affects the body’s connective tissue, characterized by changes in three major connective tissue systems: the musculoskeletal, ocular, and cardiovascular systems. Individuals with MFS can develop severe cardiovascular complications., and the life expectancy of patients with MFS is markedly reduced as the effects of the disease on the aorta often lead to progressive dilatation, with subsequent dissection and rupture. Obstructive sleep apnea (OSA) is highly prevalent in patients with cardiovascular diseases. There is a high prevalence of OSA in patients with MFS due to craniofacial dysmorphism and increased upper airway collapsibility. A high prevalence of OSA has been reported in patients with MFS. To date, however, there are only a few case reports regarding the treatment of OSA in MFS patients. We present a treatment in an adult MFS patient with OSA using an oral appliance (OA). The patient was a 48-year-old Japanese woman of MFS, diagnosed with moderate OSA (apnea hypopnea index [AHI] = 27.0; lowest oxygen saturation [SaO2] = 78%; maximum apnea time = 114 s]). An OA was selected as the treatment option, and post-treatment sleep study indicated a reduction in AHI to 8.8/h with an improvement in other factors (lowest SaO2 = 84%; maximum apnea time = 66 s). Additionally, the treatment resulted in a reduction in BNP levels (81.3 from 110.2 pg/ml), and the patient’s cardiac function was stable over the period in which the patient received OA treatment. This study provides a basis for the future appropriate understanding and management of OSA of MFS patients.