Abstract 17138: Pacemaker Utilization in Cohort of 85 Children with Congenital Central Hypoventilation Syndrome (CCHS) May Impact the Risk of Sudden Death
Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation, autonomic dysregulation, and risk for prolonged sinus pause based on type of Paired-like Homeobox 2B (PHOX2B) mutation. Standard of care includes annual 72-hr Holter surveillance. Utility of implanted cardiac pacemakers (PM) and all-cause mortality have not been previously described.
Hypothesis: Cardiac PM in CCHS will have minimal utilization and adverse effects, and may reduce mortality.
Methods: CCHS diagnosis was confirmed with comprehensive clinical evaluation and (after 2003), PHOX2B testing. Indications for cardiac PM implantation, pacing burden and follow-up echo (to assess left ventricular dysfunction) were reviewed.
Results: CCHS was confirmed in 85 pts (45% female). PM were implanted in 21 pts (mean age: 9 yr; range 0.8-22.6), all with PHOX2B 20/26 or 20/27 genotypes (known to heighten risk for cardiac pauses). Nineteen of the 21 PM pts (90.5%) had mild, atypical symptoms; 6/19 (32%) had overt symptoms including life-threatening events or seizures. Subsequent to the 2008 PHOX2B genotype/sinus pause risk publication (Pediatr Pulm 43:77-86), PM implantation was based on sinus pauses of ≥3 sec. In the pre-2008 cohort, all-cause mortality rate was 19.7% (12/61). In the 2008-present cohort, mortality rate was 2.9% (1/35)(p=0.03). Eleven pts overlapped cohorts; the 1 recently deceased PM pt had diffuse vasomotor instability, total gut aganglionosis, and continuous ventilator dependence. No device complications were observed in any pt. Mean burden of ventricular-pacing was 0.5% (range 0-2.4%). No ventricular dysfunction was noted in the 16/21 PM pts who had echo follow-up (mean follow-up 5.8 yrs, range 0.1-16.5).
Conclusions: A strategy of annual 72-hr Holter monitoring and PM implantation for symptoms and/or asymptomatic pauses ≥ 3 sec is associated with reduced mortality in CCHS, though the reduction may be in part due to enhanced overall care during the study period. Devices had low utilization and complication rates and were not associated with ventricular dysfunction. We propose consideration of CCHS as a new category of pts who may require cardiac pacing to impact the risk of sudden death.
- © 2011 by American Heart Association, Inc.