Heart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses

Pediatr Res. 2023 Mar;93(4):1003-1009. doi: 10.1038/s41390-022-02215-4. Epub 2022 Jul 26.


Background: Autonomic nervous system (ANS) dysregulation has been described in congenital central hypoventilation syndrome (CCHS). The objectives were to describe heart rate variability (HRV) analyses in children suffering from CCHS both while awake and asleep and their relationships with both ambulatory blood pressure (BP) and ECG monitoring results.

Methods: This retrospective study enrolled children with CCHS (n = 33, median age 8.4 years, 18 girls) who had BP and ECG monitored during the same 24 h. From the latter, HRV analyses were obtained during daytime and nighttime.

Results: The prevalences of hypertension and sinus pauses were 33% (95% confidence interval [CI]: 18-52) and 18% (95% CI: 7-35), respectively. The decrease in systolic BP at night negatively correlated with an increase in very low frequency (VLF) and LF powers at night, and the longest RR interval positively correlated with daytime VLF and LF powers. Among the three groups of children (polyalanine repeat expansion mutation [PARM], moderate [20/25 and 20/26], severe [20/27 and 20/33], and non-PARMs), the prevalence of elevated BP or hypertension was different: in PARM subjects: 6/18 moderate, 7/9 severe versus 0/6 in non-PARM (p = 0.002).

Conclusion: Modifications of cardiac ANS are associated with systemic hypertension and the occurrence of sinus pauses in CCHS.

Impact: Children with congenital central hypoventilation syndrome (CCHS) exhibit an increased prevalence of hypertension and sinus pauses that are linked to cardiac autonomic nervous system dysfunction. Sinus pauses are the main manifestation of sinus nodal dysfunction in children with CCHS. The increased prevalence of hypertension, especially at nighttime, is a new finding in CCHS. Sinus nodal dysfunction can be due to the sole impairment of the cardiac autonomic nervous system. Ambulatory blood pressure and ECG monitoring are mandatory in patients with CCHS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Pressure Monitoring, Ambulatory
  • Child
  • Female
  • Heart Rate
  • Homeodomain Proteins / genetics
  • Humans
  • Hypertension* / epidemiology
  • Retrospective Studies
  • Sleep Apnea, Central* / diagnosis
  • Sleep Apnea, Central* / epidemiology
  • Transcription Factors / genetics


  • Homeodomain Proteins
  • Transcription Factors

Supplementary concepts

  • Congenital central hypoventilation syndrome