Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Objective: Children with Congenital Central Hypoventilation Syndrome (CCHS) have cardiovascular symptoms consistent with the autonomic nervous system dysregulation/dysfunction (ANSD) phenotype. We hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD: duration of longest r-r interval and longest corrected QT interval (QTc).

Materials And Methods: We studied 501 days of Holter recordings from 39 individuals with PHOX2B mutation-confirmed CCHS, and analyzed longest r-r and QTc intervals with respect to PHOX2B genotype.