Bronchiectasis in patients with central congenital hypoventilation syndrome (CCHS)

<bold>Background:</bold> CCHS is a rare disease requiring long-term ventilation and frequently associated with gastroesophageal reflux disease (GERD). Both these factors may contribute to alter bronchi and cause bronchiectasis. Here we aimed to describe the prevalence of bronchiectasis in patients with CCHS and their risk factors. <bold>Methods:</bold> Prospective cohort including all adult patients with CCHS that undergo chest computed tomography (CT) in the national reference CCHS centre between 2019 and 2023. CT were read by two physicians (1 pulmonologist / 1 radiologist) blinded from patients’ clinical details who identified the presence of bronchiectasis. <bold>Results:</bold> Twenty-eight patients were included with a median of 29 [min 20 - Max 61]. Of those, 9 (32%) were late-onset CCHS. Bronchiectasis was identified in 14 patients (50%) none of them reporting chronic cough. Bronchiectasis were cylindric (n=11), varicose (n=2), cystic (n=1). Three patients with bronchiectasis had a history of respiratory infection (<italic>Pseudomonas aeruginosa, Stenotrophomonas maltophila, Staphylococcus aureus</italic>) and an obstructive pattern on lung function tests. Patients with bronchiectasis reported more frequently GERD (79% vs. 29%) (p<0.01), history of Hirschsprung disease (p=0.03) and cardiovascular involvement (p=0.04). Patients with bronchiectasis had a higher number of admissions for respiratory infections than those who did not: 3±2 vs. 1±1 (p=0.04). Previous or ongoing tracheostomy was not significantly associated with the presence of bronchiectasis. <bold>Conclusion:</bold> Patients with CCHS have a high prevalence of bronchiectasis. Underlying mechanisms of these bronchiectasis remains to be understood.