PATHOPHYSIOLOGY OF CONGENITAL CENTRAL HYPOVENTILATION SYNDROME

Abstract

This article examines the pathophysiology of congenital central hypoventilation syndrome. Congenital central hypoventilation syndrome is a genetic disorder of neurodevelopmental function with autosomal dominant transmission caused by heterozygous mutations in the PHOX2B gene. It presents with central hypoventilation due to an insufficient chemoreceptor response to hypercapnia and hypoxia. Associated symptoms may include pupillary abnormalities, arrhythmia, decreased heart rate variability, esophageal motility disorders, and structural comorbidities (Hirschsprung disease or neural crest tumors). Currently, there is no effective treatment for hypoventilation; treatment should focus on providing adequate respiratory support and managing any potential comorbidities