Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome

Autonomic dysfunction is common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation, and breath-holding episodes. Cardiovascular autonomic dysfunction may result in fatal a arrhythmia. Many of these events are mistaken for seizures and treated with antiepileptics.

The present study was conducted in a tertiary care teaching hospital in north India for more than a six month period. MeCP2 mutation positive, 24 cases with Rett syndrome and 24 age-matched healthy girls were evaluated for cardiovascular autonomic dysfunction (heart rate variability, head-up tilt test, and cold pressor test).

The mean age was 9.06 years (±3.4) and 9.75 years (±3.13) for patients and control subjects, respectively. The heart rate variability contributed independently by parasympathetic and sympathetic nervous system was significantly reduced in cases compared with control subjects (P = 0.033 and P = 0.001, respectively). There was significant sympathovagal imbalance with sympathetic overactivity in cases compared with control subjects (P = 0.001). The mean longest QT_c interval was significantly prolonged in cases compared with control subjects (P = 0.001). Cold pressor test and head-up tilt test could be done in 16 Rett syndrome patients (because of poor cooperation) and in all 24 control subjects. The change in blood pressure during cold pressor test and head-up tilt test was not significantly different in cases and control subjects.

Children with Rett syndrome exhibited significant cardiovascular autonomic dysfunction in the form of sympathetic overactivity, parasympathetic underactivity, and sympathovagal imbalance. These findings have potentially important therapeutic- and outcome-related implications.