Obstructive sleep apnea syndrome and autonomic dysfunction in Duchenne muscular dystrophy.

PURPOSE: Cardiac and respiratory involvement constitutes serious complications of Duchenne muscular dystrophy (DMD). We hypothesized that obstructive sleep apnea syndrome (OSAS) may play a role in cardiac autonomic dysfunction in DMD. We sought to assess the presence of cardiac autonomic function in patients with DMD by analyzing heart rate variability (HRV) during polysomnography (PSG). METHODS: In a prospective study, all participants had whole-night PSG recorded and scored according to American Academy of Sleep Medicine guidelines. HRV analysis was performed on electrocardiography recordings from PSG recordings. RESULTS: Twelve consecutive males with DMD (mean age 9.0 ± 3.1 years, mean BMI 20.6 ± 4.8 kg/m2) and eight age-matched healthy males were enrolled. On clinical evaluation, 58% of patients with DMD had at least one symptom related to OSAS, such as snoring, witnessed apnea, or restless sleep. None of the controls had OSAS-related complaints. By PSG none of the controls had OSAS, while 42% of patients with DMD had OSAS (p = 0.004). Average R-R duration and mean percentage of successive R-R intervals > 50 ms values were significantly lower in patients with DMD than those in controls (p < 0.006). In patients with DMD and OSAS, LF/HF (low/high-frequency) ratio was significantly increased in NREM sleep compared with those in controls (p = 0.005). Higher apnea-hypopnea index and lower oxygen saturation showed significant correlations with higher LF power and LF/HF ratio (p < 0.001). CONCLUSION: Cardiac autonomic dysfunction is present in DMD, being more pronounced in the presence of OSAS.

The effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in spinal muscular atrophy.

In patients with spinal muscular atrophy (SMA), obstructive sleep apnea syndrome (OSAS) constitutes an important cause of cardiovascular morbidity and mortality. We investigated heart rate variability (HRV) to evaluate the effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in patients with SMA and OSAS. Six patients with SMA (type 1 and 2) and six age- and sex-matched healthy children were consecutively enrolled. A whole-night diagnostic polysomnography was performed, and SMA patients with OSAS were given non-invasive mechanical ventilation therapy. HRV analysis was performed on the basis of whole-night electrocardiography recordings via a computer-base program. Apnea-hypopnea index (AHI) was 9.2 ±â€¯6.2/hr in SMA patients, while it was 0.4 ±â€¯0.5/hr in controls (p = 0.036). All SMA patients had OSAS, while none of the controls had OSAS (p = 0.012). Mean percentage of successive R wave of QRS complex (R-R) intervals>50 ms was significantly lower in SMA patients than those in controls (p = 0.031). Significant correlations were found between AHI and high-frequency power, low/high-frequency ratio in wakefulness and in sleep (p<0.05). Repeated HRV analysis in SMA patients following OSAS therapy showed significant reductions in average R-R duration (p = 0.028) and percentage of successive R-R intervals>50 ms (p = 0.043). Our study demonstrates the beneficial effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in SMA patients with OSAS.