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• W3090754477 abstract "Free AccessCommentarySome congenital diseases may just show up later Manju S. Hurvitz, MD, Rakesh Bhattacharjee, MD, CBSM, DBSM, RPSGT Manju S. Hurvitz, MD Search for more papers by this author , Rakesh Bhattacharjee, MD, CBSM, DBSM, RPSGT Search for more papers by this author Published Online:November 15, 2020https://doi.org/10.5664/jcsm.8850SectionsAbstractPDF ShareShare onFacebookTwitterLinkedInRedditEmail ToolsAdd to favoritesDownload CitationsTrack Citations AboutABSTRACTCitation:Hurvitz MS, Bhattacharjee R. Some congenital diseases may just show up later. J Clin Sleep Med. 2020;16(11):1835–1836.INTRODUCTIONCongenital central hypoventilation syndrome (CCHS) is a rare genetic disorder marked by alveolar hypoventilation and autonomic dysregulation.1 The classical presentation of CCHS is during the neonatal period when affected infants display profound hypoventilation on day 1 of life and usually during sleep periods, often necessitating mechanical ventilation.2,3 In addition, these children may experience multisystem autonomic dysregulation, arrhythmias, ophthalmic abnormalities, and cognitive abnormalities.4–9 Treatment consists mainly of supportive respiratory care with nocturnally assisted ventilation at a minimum.10The putative gene mutation for CCHS has been identified as an autosomal dominant mutation of the paired-like homeobox 2B (PHOX2B) gene on chromosome 4p12, with > 90% of cases of CCHS arising as de novo mutations.11–13 Mutations in the PHOX2B protein disrupt normal neural cell migration and differentiation, which also lead to a propensity for Hirschsprung disease and several neural crest tumors in these children.6,14 Mutations in PHOX2B consist of either (1) polyalanine repeat mutations, where a greater number of repeat mutations are associated with a higher disease severity including a greater degree of hypoventilation, or (2) nonpolyalanine repeat mutations.15 Although prognosis and lifespan depend largely on a timely diagnosis and the response to treatment,16,17 the severity of disease can be determined in part by the characterization of mutations in the PHOX2B gene.In the study by Hino et al18 published in this issue of the Journal of Clinical Sleep Medicine, the authors report on a previously healthy patient aged 60 years with a diagnosis of CCHS established during late adulthood, also termed late-onset CCHS (LO-CCHS). In addition to reporting the characteristics of this patient, the authors systematically review previously published reports of LO-CCHS to further describe the clinical course of this disease entity. LO-CCHS is typically diagnosed outside the neonatal period and is considered the mildest on the spectrum of CCHS. Despite the advances in our understanding of CCHS over the past decade, the diagnosis remains challenging and requires high clinical suspicion. Current estimates of CCHS likely underestimate the true prevalence and burden of disease, particularly in patients with these nonsevere presentations in which the only feature may be the very mild sleep-related hypoventilation. Typically, patients with LO-CCHS have fewer polyalanine repeat mutations (ie, 20/24 and 20/25 genotype) and are often undiagnosed because of subtle clinical symptoms. Because CCHS is now readily diagnosed by PHOX2B gene sequencing, patients with LO-CCHS have been recently described; however, the features of LO-CCHS are relatively understudied, and the clinical characteristics and longitudinal prognosis of adult carriers with the PHOX2B mutation remain unclear.In their study, Hino et al18 allocate study patients into 1 of 2 groups based on CCHS diagnosis. Group A included adults with diagnosed LO-CCHS, and group B included adult carriers of the PHOX2B mutation, mostly identified through the screening of family members of patients with CCHS. The authors report that in patients with LO-CCHS (group A), the presentation of disease was primarily triggered by general anesthesia or respiratory tract infections. All patients in group A subsequently required chronic ventilatory support and had 20/25 polyalanine repeat mutations genotype. In contrast, adult carriers of the PHOX2B mutation (group B) were found to have a more diverse set of mutations, in addition to several patients who also had 20/25 polyalanine repeat mutations. Notably, more than one-quarter of the patients in group B were subsequently diagnosed with LO-CCHS; however, hypoventilation was undiagnosed in these patients when polysomnography was performed without carbon dioxide monitoring.This study fills a gap in sleep researchers’ knowledge regarding the clinical course of patients with LO-CCHS, which has not been previously described to this extent. The presenting characteristics of LO-CCHS disease onset have been described in the literature, but they have not been systematically analyzed. The study highlights the importance of considering LO-CCHS in the differential diagnosis of adults with unexplained alveolar hypoventilation, particularly if triggered by general anesthesia or as a consequence of a respiratory tract infection. Although it is not specifically investigated in this article, the finding of sinus pauses or asystole, or other disturbances in autonomic function, should also be a pertinent consideration for the diagnosis of LO-CCHS in adult patients.Although all patients with LO-CCHS in group A were identified with 20/25 polyalanine repeat mutations genotype, as stated, patients in group B showed more variable PHOX2B mutations. Notwithstanding this finding, the study by Hino et al18 underlines the importance of identifying mutation types, even in milder presentations, because most often the classification of disease-causing mutations can be used to prognosticate these patients including providing a framework for how to longitudinally monitor them for the development of clinically significant disease.The inclusion of adult carriers of the PHOX2B mutation (group B) in Hino et al18 also sheds light on the difficulty of establishing a diagnosis of CCHS using conventional techniques. The authors reported that a subset of asymptomatic carriers of the PHOX2B mutation had undiagnosed hypoventilation but were in fact initially diagnosed with OSA. The undiagnosed hypoventilation was partly a result of the lack of carbon dioxide monitoring with conventional overnight polysomnography, which is typical of most adult polysomnography testing facilities. This trend emphasizes how polysomnography with carbon dioxide monitoring (end-tidal or transcutaneous) may facilitate the diagnosis of many patients with LO-CCHS, even in patients classified as asymptomatic carriers.Overall, the variability in the reported ages at time of diagnosis for patients with LO-CCHS signifies the heterogeneous nature of the disease, which is related to the nature of disease-classifying mutations coupled with varying degrees of gene penetrance. Recognition of LO-CCHS underlines the importance of suspicion of this congenital disease, including in adult patients, who may present with unexplained hypoventilation later in life, even at age 60 years.DISCLOSURE STATEMENTThis was not an industry-supported study. The authors report no conflicts of interest.REFERENCES1. Maloney MA, Kun SS, Keens TG, Perez IA. Congenital central hypoventilation syndrome: diagnosis and management. Expert Rev Respir Med. 2018;12(4):283–292. https://doi.org/10.1080/17476348.2018.1445970 CrossrefGoogle Scholar2. Paton JY, Swaminathan S, Sargent CW, Keens TG. Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. Am Rev Respir Dis. 1989;140(2):368–372. https://doi.org/10.1164/ajrccm/140.2.368 CrossrefGoogle Scholar3. Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DE. Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome. J Appl Physiol. 2014;116(4):439–450. https://doi.org/10.1152/japplphysiol.01310.2013 CrossrefGoogle Scholar4. Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C; French CCHS Working Group. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest. 2005;127(1):72–79. https://doi.org/10.1378/chest.127.1.72 CrossrefGoogle Scholar5. Trang H, Girard A, Laude D, Elghozi JL. Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine’s curse). Clin Sci (Lond). 2005;108(3):225–230. https://doi.org/10.1042/CS20040282 CrossrefGoogle Scholar6. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee. An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir.Crit Care Med. 2010;181(6):626–644. https://doi.org/10.1164/rccm.200807-1069ST CrossrefGoogle Scholar7. Goldberg DS, Ludwig IH. Congenital central hypoventilation syndrome: ocular findings in 37 children. J Pediatr Ophthalmol Strabismus. 1996;33(3):175–180. CrossrefGoogle Scholar8. Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010;45(1):92–98. https://doi.org/10.1002/ppul.21170 CrossrefGoogle Scholar9. Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. 24-hour BP in children with congenital central hypoventilation syndrome. Chest. 2003;124(4):1393–1399. CrossrefGoogle Scholar10. Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA. Congenital central hypoventilation syndrome: an overview of etiopathogenesis, associated pathologies, clinical presentation, and management. Auton Neurosci. March 2018;210:1–9. CrossrefGoogle Scholar11. Bishara J, Keens TG, Perez IA. The genetics of congenital central hypoventilation syndrome: clinical implications. Appl Clin Genet. November 2018;11:135–144. CrossrefGoogle Scholar12. Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al.. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003;123A(3):267–278. CrossrefGoogle Scholar13. Amiel J, Laudier B, Attié-Bitach T, et al.. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33(4):459–461. CrossrefGoogle Scholar14. Broch A, Trang H, Montalva L, Berrebi D, Dauger S, Bonnard A. Congenital central hypoventilation syndrome and Hirschsprung disease: a retrospective review of the French National Registry Center on 33 cases. J Pediatr Surg. 2019;54(11):2325–2330. CrossrefGoogle Scholar15. Weese-Mayer DE, Rand CM, Berry-Kravis EM, et al.. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009;44(6):521–535. CrossrefGoogle Scholar16. Weese-Mayer DE, Rand CM, Zhou A, Carroll MS, Hunt CE. Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life. Pediatr Res. 2017;81(1–2):192–201. CrossrefGoogle Scholar17. Kasi AS, Perez IA, Kun SS, Keens TG. Congenital central hypoventilation syndrome: diagnostic and management challenges. Pediatric Health Med Ther. August 2016;7:99–107. https://doi.org/10.2147/PHMT.S95054 CrossrefGoogle Scholar18. Hino A, Terada J, Kasai H, et al.. Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis. J Clin Sleep Med. 2020;16(11):1891–1900. https://doi.org/10.5664/jcsm.8732 LinkGoogle Scholar Next article FiguresReferencesRelatedDetails Volume 16 • Issue 11 • November 15, 2020ISSN (print): 1550-9389ISSN (online): 1550-9397Frequency: Monthly Metrics History Submitted for publicationSeptember 24, 2020Submitted in final revised formSeptember 24, 2020Accepted for publicationSeptember 24, 2020Published onlineNovember 15, 2020 Information© 2020 American Academy of Sleep Medicine" @default.
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