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Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
Auton Neurosci. 2018 03; 210:1-9.AN

Abstract

Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO2 receptors in the medulla. CCHS correlates to the malformation of the neural crest located in the brainstem; this consequently affects the loss of sensitivity of CO2 chemoreceptors, bringing about hypoventilation during sleep. The primary cause of CCHS is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. This mutation not only affects breathing but also drives neurological abnormalities such as autonomic and neurocognitive dysfunction. Though typically congenital, there have been late-onset (i.e., acquired) cases reported. It is vital for physicians and clinicians to be able to diagnose CCHS due to its similar presentation to other syndromes and disorders, which may cause it to be misdiagnosed and may account for its deleterious effects. CCHS can lead to a constellation of symptoms, and consideration of diseases that present concomitantly with CCHS affords us a better understanding of the etiology of this illness. Although a rare syndrome, we aim to review the current literature to emphasize the pathogenesis, etiology, clinical presentation, symptoms, diagnosis, and current treatment methods of CCHS for clinicians to better identify and understand this condition.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Zaidi S
Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, USA.
Gandhi J
Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, USA; Medical Student Research Institute, St. George's University School of Medicine, Grenada, West Indies.
Vatsia S
Department of Cardiothoracic Surgery, Lenox Hill Hospital, New York, NY, USA.
Smith NL
Foley Plaza Medical, New York, NY, USA.
Khan SA
Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, USA; Department of Urology, Stony Brook University School of Medicine, Stony Brook, NY, USA. Electronic address: Sardar.Khan@stonybrookmedicine.edu.

MeSH

Disease ManagementHomeodomain ProteinsHumansHypoventilationMutationSleep Apnea, CentralTranscription Factors

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

29249648

Citation

Zaidi, Saher, et al. "Congenital Central Hypoventilation Syndrome: an Overview of Etiopathogenesis, Associated Pathologies, Clinical Presentation, and Management." Autonomic Neuroscience : Basic & Clinical, vol. 210, 2018, pp. 1-9.
Zaidi S, Gandhi J, Vatsia S, et al. Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management. Auton Neurosci. 2018;210:1-9.
Zaidi, S., Gandhi, J., Vatsia, S., Smith, N. L., & Khan, S. A. (2018). Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management. Autonomic Neuroscience : Basic & Clinical, 210, 1-9. https://doi.org/10.1016/j.autneu.2017.11.003
Zaidi S, et al. Congenital Central Hypoventilation Syndrome: an Overview of Etiopathogenesis, Associated Pathologies, Clinical Presentation, and Management. Auton Neurosci. 2018;210:1-9. PubMed PMID: 29249648.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management. AU - Zaidi,Saher, AU - Gandhi,Jason, AU - Vatsia,Sohrab, AU - Smith,Noel L, AU - Khan,Sardar Ali, Y1 - 2017/11/13/ PY - 2017/08/04/received PY - 2017/10/10/revised PY - 2017/11/12/accepted PY - 2017/12/19/pubmed PY - 2018/10/5/medline PY - 2017/12/19/entrez KW - Congenital central hypoventilation syndrome KW - Diaphragm pacing KW - Hirschsprung's disease KW - Ondine's curse KW - Positive-pressure ventilation KW - Progestin KW - Sudden infant death syndrome SP - 1 EP - 9 JF - Autonomic neuroscience : basic & clinical JO - Auton Neurosci VL - 210 N2 - Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO2 receptors in the medulla. CCHS correlates to the malformation of the neural crest located in the brainstem; this consequently affects the loss of sensitivity of CO2 chemoreceptors, bringing about hypoventilation during sleep. The primary cause of CCHS is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients. This mutation not only affects breathing but also drives neurological abnormalities such as autonomic and neurocognitive dysfunction. Though typically congenital, there have been late-onset (i.e., acquired) cases reported. It is vital for physicians and clinicians to be able to diagnose CCHS due to its similar presentation to other syndromes and disorders, which may cause it to be misdiagnosed and may account for its deleterious effects. CCHS can lead to a constellation of symptoms, and consideration of diseases that present concomitantly with CCHS affords us a better understanding of the etiology of this illness. Although a rare syndrome, we aim to review the current literature to emphasize the pathogenesis, etiology, clinical presentation, symptoms, diagnosis, and current treatment methods of CCHS for clinicians to better identify and understand this condition. SN - 1872-7484 UR - https://www.unboundmedicine.com/medline/citation/29249648/Congenital_central_hypoventilation_syndrome:_An_overview_of_etiopathogenesis_associated_pathologies_clinical_presentation_and_management_ DB - PRIME DP - Unbound Medicine ER -