Congenital Central Hypoventilation Syndrome Associated With Multiple Ganglioneuromas

Swaminathan, Soumya; Gilsanz, V; Atkinson, James B.; Keens, Thomas G.

doi:10.1378/chest.96.2.423

Cited by 64 publications

(23 citation statements)

References 7 publications

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“…Indeed, both diseases have been considered to be part of a broader phenomenon of autonomic nervous system dysfunction (ANSD) in recent literature Weese-Mayer et al, 2001]. These publications, coupled with the recognized association of CCHS with tumors of neural crest origin [Bolande, 1974;Haddad et al, 1978;Bower and Adkins, 1980;Swaminathan et al, 1989], report of childhood neuroblastoma in a mother whose infant has CCHS [Devriendt et al, 2000], as well as our current case reports, further illustrate the phenomenon of CCHS as part of ANSD and suggest a genetic link.…”

Section: Discussionsupporting

confidence: 69%

Idiopathic congenital central hypoventilation syndrome: the next generation

et al. 2002

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Idiopathic congenital central hypoventilation syndrome (CCHS) is a rare disorder in which affected children have a decreased sensitivity of their respiratory centers to hypercarbia and hypoxia, as well as evidence for generalized autonomic nervous system dysfunction. A genetic origin has long been hypothesized for CCHS. Previous reports of the syndrome among twins, siblings, and half siblings, as well as an established association with Hirschsprung disease and neural crest tumors support this genetic hypothesis. Here, we present the first reported offspring born to four women diagnosed with idiopathic CCHS. Their children display a spectrum of abnormalities with one child being diagnosed with CCHS, one child with recurrent apparent life threatening events, one infant born prematurely with severe chronic lung disease and diminished ventilatory responses to carbon dioxide, and one infant who is apparently healthy with no clinical manifestations suggestive of disordered respiratory control to date. Two and potentially three of these patients illustrate transmission of altered respiratory control by CCHS patients into the next generation, furthering the evidence that CCHS is part of a broadly based inherited syndrome of autonomic nervous system dysfunction.

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Section: Discussionsupporting

confidence: 69%

Idiopathic congenital central hypoventilation syndrome: the next generation

et al. 2002

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“…Similar cases have been reported by many investigators [2][3][4][5]. CCHS has been associated with several disorders, including neuroblastoma, ganglioneuroma, and, most frequently, Hirschsprung dis ease (HSCR) because of broader structural and functional impairments of the autonomic nervous system [6][7][8]. HSCR (congenital megacolon; OMIM 142623) occurs in 16% of CCHS patients.…”

Section: Introductionsupporting

confidence: 67%

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee

Kim

2014

J Genet Med

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“…CCHS may be associated with other conditions such as Hirschsprung's disease, neuroblastoma, and ganglioneuromas (4,(8)(9)(10)(11)(12)(13)(14). A primary defect of brain stem serotonergic nerve cell or a neural crest migrational abnormality has been suggested as a possible explanation for this linkage (9, 1 1, 13, 15).…”

mentioning

confidence: 99%

Heart Rate Variability in Congenital Central Hypoventilation Syndrome

Woo²,

et al. 1992

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ABSTRACT. Heart rate variability was assessed in 12 patients with congenital central hypoventilation syndrome (CCHS) and in age-and sex-matched controls using SD of time intervals between R waves (R-R intervals), R-R interval histograms, spectral analysis, and PoincarC plots of sequential R-R intervals over a 24-h period using ambulatory monitoring. Mean heart rates in patients with CCHS were 103.3 f 17.7 SD and in controls were 98.8 f 21.6 SD ( p > 0.5, NS). SD analysis of R-R intervals showed similar results in both groups (CCHS 102.2 f 36.0 ms versus controls 126.1 f 43.3 ms; p > 0.1, NS). Spectral analysis revealed that, for similar epochs sampled during quiet sleep and wakefulness, the ratios of low-frequency band to high-frequency band spectral power were increased for 11 of 12 patients with CCHS during sleep, whereas a decrease in these ratios was consistently observed in all controls during comparable sleep states (xZ = 20.31; p < 0.000007). During wakefulness, the ratios of low-frequency band to high-frequency band spectral power were similar in both patients with CCHS and controls. Poincare plots displayed significantly reduced beat-to-beat changes at slower heart rates in the CCHS patients (xZ = 24.0; p < 0.000001). The scatter of points in CCHS Poincare plots was easily distinguished from controls. All CCHS patients showed disturbed variability with one or more measures. The changes in moment-to-moment heart rate variability suggest that, in addition to a loss of ventilatory control, CCHS patients exhibit a dysfunction in autonomic nervous system control of the heart. (Pediafr Res 31: 291-296, 1992) Abbreviations CCHS, congenital central hypoventilation syndrome HRV, heart rate variability R-R, time interval between R waves LO-HI, ratio of low-frequency band to high-frequency band spectral power

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Congenital Central Hypoventilation Syndrome Associated With Multiple Ganglioneuromas

Cited by 64 publications

References 7 publications

Idiopathic congenital central hypoventilation syndrome: the next generation

Idiopathic congenital central hypoventilation syndrome: the next generation

Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Heart Rate Variability in Congenital Central Hypoventilation Syndrome

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