Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with centr...

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Published inJournal of clinical sleep medicine Vol. 19; no. 9; pp. 1697 - 1700
Main Authors Kagan, Odeya, Zhang, Christina, McElyea, Christine, Keens, Thomas G, Davidson Ward, Sally L, Perez, Iris A
Format Journal Article
LanguageEnglish
Published United States American Academy of Sleep Medicine 01.09.2023
Subjects
Case Reports
Female
Homeodomain Proteins - genetics
Humans
Hypoventilation - complications
Hypoventilation - congenital
Hypoventilation - diagnosis
Hypoventilation - genetics
Infant
Male
Polysomnography
Sleep Apnea, Central - complications
Sleep Apnea, Central - diagnosis
Sleep Apnea, Central - genetics
Sleep Apnea, Central - physiopathology
Sleep Apnea, Obstructive - diagnosis
Sleep Apnea, Obstructive - genetics
Transcription Factors
obstructive sleep apnea
congenital central hypoventilation syndrome
CCHS
OSA
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Summary:Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report on three patients with obstructive sleep apneas with absent or mild hypoventilation. Our cases propose that obstructive apneas can be the primary presentation in patients who subsequently develop the classic phenotype of congenital central hypoventilation syndrome and emphasize their close monitoring and surveillance. Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome. . 2023;19(9):1697-1700.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:1550-9389
1550-9397
1550-9397
DOI:10.5664/jcsm.10634