Congenital central hypoventilation syndrome: A pictorial demonstration of absent electrical diaphragmatic activity using non‐invasive neurally adjusted ventilatory assist

Sinclair, Ruth; Teng, Arthur; Jonas, Catherine; Schindler, Tim

doi:10.1111/jpc.13690

Cited by 6 publications

(3 citation statements)

References 7 publications

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“…6 Recently, Sinclair et al also reported a case where they captured central apnea during sleep using NAVA technology in a newborn child, who was later confirmed to have CCHS. 7 In our case also, the NAVA mode demonstrated decreased respiratory drive during sleep and gave us an early clue to the diagnosis. We feel that, in a child presenting with recurrent apneas where all common causes have been ruled out, NAVA may be used as an adjunct for diagnosing CCHS.…”

Section: Discussionsupporting

confidence: 63%

Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome

Rauf

Gupta

Sachdev

et al. 2019

Indian Journal of Critical Care Medicine

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Congenital central hypoventilation syndrome (CCHS) is characterized by shallow breathing during sleep due to negligible ventilatory sensitivity to hypercarbia and hypoxemia. It is diagnosed using a genetic test for PHOX2B mutation, which is not easily available. Neurally adjusted ventilatory assist (NAVA) is a spontaneous ventilatory mode that was designed basically for better adapting the ventilator to the patient by using electrical activity of diaphragm (EAdi) signals. We report a case of a 6-month-old infant who presented with recurrent apneas, where differential decrease in EAdi discharges during sleep using NAVA served as an early clue to the diagnosis of CCHS. Definitive diagnosis was later confirmed by genetic testing.How to cite this articleRauf A, Gupta D, Sachdev A, Gupta N, Gupta S, Kumar P, et al. Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome. IJCCM 2019;23(11):536–537.

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Section: Discussionsupporting

confidence: 63%

Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome

Rauf

Gupta

Sachdev

et al. 2019

Indian Journal of Critical Care Medicine

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“…Одним из перспективных способов терапии является технология нейрорегулируемой вспомогательной вентиляции легких (Neurally Adjusted Ventilatory Assist; NAVA). В этом случае используются диафрагмальные электроды, располагаемые в пищеводе для мониторинга электроимпульсов, возникающих в процессе дыхания, которые осуществляют оптимальную синхронизацию пациента с аппаратом, обеспечивающим респираторную поддержку [14,38].…”

Section: клиническое наблюдениеunclassified

Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Clinical Case

Adylov,

Shestak

2023

Vopr. sovr. pediatr.

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Background. Congenital central hypoventilation syndrome (CCHS), or Ondine’s Curse, is rare, incurable and life-threatening disease characterized by autonomic nervous system disorders, it manifests with disability to maintain ventilation function during sleep. Sensitivity to hypoxia and hypercapnia is reduced in case of CCHS, thus, it leads to recurrent episodes of deep apnea. The world literature describes just over 1000 cases of this disease. Clinical case description. An infant born at 37th week of gestation, weight of 3330 g, had episodes of apnea and hypercapnia from the first day of life. CCHS was suspected by the 28th day of life after excluding other causes of respiratory disorders, and it was genetically confirmed by the 43rd day of life — pathogenic variant of PHOX2B gene was revealed. Mechanical ventilation has been initiated by the age of 1 month after disease worsening. Analysis of CCHS cases published in Russian-language medical literature was performed. Typical symptoms and timing of their manifestation, as well as the time before correct diagnosis were mentioned. Conclusion. Symptoms that can be suggestive of CCHS presence early after birth and can urge to perform all the necessary genetic testing that are crucial for timely treatment onset and for minimizing the negative effect of hypoxemia and hypercapnia on the child are described.

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“…Our initial search identified 53 neonatal-onset CCHS cases from 33 papers [10, [42][43][44]. After systematically reviewing, seven cases were excluded from our analyses because of lacking important information or co-occurrence of other genetic conditions.…”

Section: Literature Review Of Neonatal-onset Cchs Casesmentioning

confidence: 99%

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

Mei

Yang

et al. 2020

Preprint

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Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in PHOX2B gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. Our study aimed to expand current knowledge of clinical and genetic features of neonates with CCHS and provide data on the genotype-phenotype correlation.Methods: We made a retrospective analysis of 14 neonates carrying PHOX2B pathogenic variants from 2014 to 2019 and we reviewed previously published neonatal-onset cases. Clinical and genetic data were analyzed. Moreover, genotype-phenotype correlation analysis was performed.Results: We identified a total of 60 cases with neonatal-onset CCHS including 14 novel cases from our local cohort. Nearly 20% (18.2%, 10/55) of the patients were born prematurely. Nearly half (46.2%, 18/39) of the patients had abnormal family history. Polyhydramnios was observed in 21.3% (10/47) of the patients. About 90% of the patients manifested hypoventilation in the first week. Forty-six (76.7%) patients were classified as severer-CCHS. Gastrointestinal manifestations were observed in 71.7% of the patients. Approximately twofold more males than females were affected by Hirschprung disease (HSCR)/variant HSCR (75.8% vs 35%, P=0.003). Neural crest tumor occurred in 9.1% (4/44) patients. Half patients had PARMs in PHOX2B and the left had 23 distinct non-PARMs (NPARMs) with one novel variant (c.684dup). The prevalence of HSCR and mild-CCHS among patients with NPARMs was significantly greater than that of the patients with PARMs.Conclusions: This report provides a large cohort of neonatal-onset CCHS cases. The results indicate that severe hypoventilation and HSCR are frequently observed in this group. NPARMs accounted for half of the cohort with some genotypes tend to be associated with mild phenotype. Molecular testing in suspicious neonates and genetic counseling for CCHS families are highly recommended.

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Congenital central hypoventilation syndrome: A pictorial demonstration of absent electrical diaphragmatic activity using non‐invasive neurally adjusted ventilatory assist

Cited by 6 publications

References 7 publications

Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome

Neurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Clinical Case

Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

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