Guidelines for diagnosis and management of congenital central hypoventilation syndrome

CC BYHa TrangIsabella CeccheriniMartin SamuelsMatthias FrerickMaria Angeles Garcia-TeresaJochen PetersJohannes SchoeberMarek MigdalAgneta MarkstromGiancarlo OttonelloRaffaele PiumelliMaria Helena EstevaoIrena Senecic-CalaBarbara Gnidovec-StrazisarAndreas PflegerRaquel Porto-AbalMiriam Katz-Salamon2025-06-142025-06-142020-09-211750-117210.1186/s13023-020-01460-2https://trapdev.rcub.bg.ac.rs/handle/123456789/371244AbstractBackgroundCongenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression.BodyThis paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.ConclusionAwareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.OPENAdultHomeodomain ProteinsHirschsprung diseaseRReviewHypoventilationPHOX2BNeural crest tumourSleep Apnea, CentralDysautonomiaCentral hypoventilationLong-term ventilationMutationMedicineHumansChildTranscription FactorsGuidelines for diagnosis and management of congenital central hypoventilation syndromepublication03 medical and health sciences0302 clinical medicine3. Good healthdoi_dedup___PMC75034433295802420.500.12530/83575