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Congenital central hypoventilation syndrome: diagnosis and management.
Expert Rev Respir Med. 2018 Apr; 12(4):283-292.ER

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we will discuss how evaluation of the disease-defining PHOX2B gene aids diagnosis and helps prognosticate disease severity, review disease physiology, describe clinical presentation and various aspects of autonomic nervous system dysregulation, review ventilatory strategies, and highlight current challenges in the care of these complex patients. Expert commentary: CCHS is a rare disorder that requires a high degree of vigilance. PHOX2B mutation is essential for diagnosis and also helps direct disease management. There is currently no pharmacologic treatment proven effective in improving disease-related hypoventilation and care is focused on providing adequate ventilatory support and managing autonomic dysfunction.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Maloney MA
a Children's Hospital Los Angeles , Division of Pediatric Pulmonology and Sleep Medicine , Los Angeles , USA.
Kun SS
a Children's Hospital Los Angeles , Division of Pediatric Pulmonology and Sleep Medicine , Los Angeles , USA.
Keens TG
a Children's Hospital Los Angeles , Division of Pediatric Pulmonology and Sleep Medicine , Los Angeles , USA. b Physiology and Biophysics , Keck School of Medicine of the University of Southern California , Los Angeles , USA.
Perez IA
a Children's Hospital Los Angeles , Division of Pediatric Pulmonology and Sleep Medicine , Los Angeles , USA. b Physiology and Biophysics , Keck School of Medicine of the University of Southern California , Los Angeles , USA.

MeSH

Homeodomain ProteinsHumansHypoventilationMutationRespiration, ArtificialSleep Apnea, CentralTranscription Factors

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

29486608

Citation

Maloney, Melissa A., et al. "Congenital Central Hypoventilation Syndrome: Diagnosis and Management." Expert Review of Respiratory Medicine, vol. 12, no. 4, 2018, pp. 283-292.
Maloney MA, Kun SS, Keens TG, et al. Congenital central hypoventilation syndrome: diagnosis and management. Expert Rev Respir Med. 2018;12(4):283-292.
Maloney, M. A., Kun, S. S., Keens, T. G., & Perez, I. A. (2018). Congenital central hypoventilation syndrome: diagnosis and management. Expert Review of Respiratory Medicine, 12(4), 283-292. https://doi.org/10.1080/17476348.2018.1445970
Maloney MA, et al. Congenital Central Hypoventilation Syndrome: Diagnosis and Management. Expert Rev Respir Med. 2018;12(4):283-292. PubMed PMID: 29486608.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital central hypoventilation syndrome: diagnosis and management. AU - Maloney,Melissa A, AU - Kun,Sheila S, AU - Keens,Thomas G, AU - Perez,Iris A, Y1 - 2018/02/28/ PY - 2018/3/1/pubmed PY - 2019/1/29/medline PY - 2018/3/1/entrez KW - Alveolar hypoventilation KW - CCHS KW - PHOX2B KW - autonomic dysregulation KW - congenital central hypoventilation syndrome KW - diaphragm pacing KW - home mechanical ventilation KW - respiratory control SP - 283 EP - 292 JF - Expert review of respiratory medicine JO - Expert Rev Respir Med VL - 12 IS - 4 N2 - Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we will discuss how evaluation of the disease-defining PHOX2B gene aids diagnosis and helps prognosticate disease severity, review disease physiology, describe clinical presentation and various aspects of autonomic nervous system dysregulation, review ventilatory strategies, and highlight current challenges in the care of these complex patients. Expert commentary: CCHS is a rare disorder that requires a high degree of vigilance. PHOX2B mutation is essential for diagnosis and also helps direct disease management. There is currently no pharmacologic treatment proven effective in improving disease-related hypoventilation and care is focused on providing adequate ventilatory support and managing autonomic dysfunction. SN - 1747-6356 UR - https://www.unboundmedicine.com/medline/citation/29486608/Congenital_central_hypoventilation_syndrome:_diagnosis_and_management_ DB - PRIME DP - Unbound Medicine ER -