Congenital Failure of Automatic Control of Ventilation, Gastrointestinal Motility and Heart Rate

Haddad, Gabriel G.; Mazza, Norman M; Defendini, Richard; Blanc, William A.; Driscoll, John M.; Epstein, Miles L.; Epstein, Robert; Mellins, Robert B.

doi:10.1097/00005792-197811000-00003

Cited by 256 publications

(153 citation statements)

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“…50 CCHS is considered a unique genetic entity with diffuse autonomic dysregulation, Hirschsprung disease in ϳ20% of cases, various tumors of neural crest origin in ϳ5% of cases, and characteristic facies. 54,[57][58][59] Individuals with the CCHS phenotype are heterozygous for a PHOX2B gene mutation located on chromosome 4p12. [60][61][62][63][64] In 90% to 95% of CCHS cases there is a polyalanine expansion mutation in exon 3, and in 5% to 10% of cases there is a unique mutation.…”

Section: Disorders With Cardiorespiratory Dysregulationmentioning

confidence: 99%

Pediatric Autonomic Disorders

2006

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The scope of pediatric autonomic disorders is not well recognized. The goal of this review is to increase awareness of the expanding spectrum of pediatric autonomic disorders by providing an overview of the autonomic nervous system, including the roles of its various components and its pervasive influence, as well as its intimate relationship with sensory function. To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood.www.pediatrics.org/cgi

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Section: Disorders With Cardiorespiratory Dysregulationmentioning

confidence: 99%

Pediatric Autonomic Disorders

2006

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“…Significant differences in the severity of ventilatory control exist among patients, ranging from those who require mechanical ventilation only during sleep to those in whom continuous ventilatory support is mandatory. An abnormal central integration of chemoreceptor neural input has been postulated as the mechanism responsible for the failure of autonomic control of ventilation in these children (1)(2)(3)(4)(5). No radiologic or pathologic evidence of specific brainstem or central nervous lesions reported to date could account for the unique clinical manifestations of CCHS (6).…”

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confidence: 99%

“…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).…”

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confidence: 99%

“…Indeed, neuroblasts from the neural crest migrate to form sympathetic ganglia, visceral autonomic ganglia, the chromaffin system, and other CNS structures. Although CCHS is associated with other neural crest congenital anomalies, the assessment of autonomic nervous system functions by measures such as HRV has not been systematically studied (4). Of current measures of autonomic nervous system function, HRV (the moment-to-moment change in heart beat intervals) provides a simple, noninvasive means of examining both short-and long-term patterns during different behavioral states.…”

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confidence: 99%

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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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“…It is named after the author who first described three newborns with absent control of breathing and Hirschsprung's disease. 7 We report a newborn admitted with respiratory distress and Hirschsprung's disease who was subsequently diagnosed with Haddad syndrome.…”

Section: Introductionmentioning

confidence: 99%