Survival in congenital central hypoventilation syndrome (CCHS): data from the European CCHS Consortium
Children with congenital central hypoventilation syndrome and Hirschsprung disease face 7-fold higher mortality, data that helps families understand their child's breathing risks.
The largest European CCHS registry analysis shows that co-occurring Hirschsprung disease (HSCR) increases mortality 6.8-fold, with only 26% 25-year survival vs 89% for isolated CCHS, driven by more severe autonomic dysfunction at birth. This consortium-level evidence directly informs risk stratification and counselling for CCHS families.
What the study was
- Study design
- Registry-based survival cohort study
- Population
- 240 patients with genetically confirmed CCHS from European CCHS Consortium registry (2012–2021); 211 with complete outcome data
- Sample size
- 240
- Category
- Public Health
- Maturity
- Validated
- Journal
- Thorax
Why it surfaced
Largest European CCHS survival dataset; definitive quantification of HSCR as mortality driver (HR 6.8) in an ultra-rare disease. Clinically actionable for risk stratification and family counselling.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.