Journal Article

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Katz-Salamon, Miriam, Trang, Ha, Gnidovec-Strazisar, Barbara, Garcia-Teresa, Maria Angeles, Samuels, Martin, Schoeber, Johannes, Migdal, Marek, Estevao, Maria Helena, Ottonello, Giancarlo, Pfleger, Andreas, Peters, Jochen, Piumelli, Raffaele, Markstrom, Agneta, Porto-Abal, Raquel, Senecic-Cala, Irena, Ceccherini, Isabella, Frerick, Matthias

2020

Overview

Background Congenital 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. Body This 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. Conclusion Awareness 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.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Adult / Adults / Alveoli / Analysis / Autonomic nervous system / Care and treatment / Central hypoventilation / Child / Congenital diseases / Diagnosis / Disease / Disease management / Dysautonomia / Eye movements / Genes / Genetic disorders / Hirschsprung disease / Homeobox / Homeodomain Proteins - genetics / Human Genetics / Humans / Hypoventilation / Hypoventilation - congenital / Hypoventilation - diagnosis / Hypoventilation - genetics / Hypoventilation - therapy / Hypoxia / Long-term ventilation / Mechanical ventilation / Medical diagnosis / Medical research / Medicine / Medicine & Public Health / Mutation / Neonates / Nervous system / Neural crest tumour / Obesity / Oxygen saturation / Pharmacology/Toxicology / PHOX2B / Phox2b protein / Rare diseases / Rare pulmonary diseases / Review / Sleep / Sleep Apnea, Central - diagnosis / Sleep Apnea, Central - genetics / Sleep Apnea, Central - therapy / Transcription Factors - genetics / Tumors / Ventilators