Heart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome

Our findings suggest parasympathetic withdrawal with advancing age in CCHS and, potentially in response, increasing sympathetic contribution to cardiac autonomic control. Reduced baroreflex sensitivity with age, potentially due to cumulative physiological stress, may contribute to this sympathetic dominance, offering insight into the heightened cardiovascular risk observed clinically with age. This novel relationship between PHOX2B variant severity, age and HRV suggests that HRV may be a sensitive, easy-to-obtain physiomarker of CCHS phenotype severity and progression, providing an opportunity to predict and anticipate increasing cardioautonomic dysregulation and risk in CCHS.