Congenital central hypoventilation syndrome

An inherited disorder where patients present with abnormal respiration in the absence of neuromuscular, lung or cardiac diseases, or an identifiable brainstem lesion. Hypoventilation occurs during sleep but can occur during wakefulness in severe cases.Autonomic defects cause inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Germline mutations in the PHOX2B, ASCL2, EDN3, and RET genes have been identified. OMIM: 209880

Also Known As:

Networked: 132 relevant articles (4 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Central Sleep Apnea (Central Sleep Apnea Syndrome)
2.	Hypoxia (Hypoxemia)
3.	Obstructive Sleep Apnea
4.	Hypercapnia
5.	Hyperglycemia

Experts

1.	Bachetti, Tiziana: 12 articles (01/2022 - 07/2005)
2.	Ceccherini, Isabella: 12 articles (01/2022 - 07/2005)
3.	Keens, Thomas G: 8 articles (05/2022 - 01/2015)
4.	Fornasari, Diego: 8 articles (04/2022 - 04/2006)
5.	Weese-Mayer, Debra E: 8 articles (11/2018 - 02/2002)
6.	Perez, Iris A: 7 articles (05/2022 - 01/2015)
7.	Di Lascio, Simona: 7 articles (04/2022 - 01/2012)
8.	Ravazzolo, Roberto: 6 articles (01/2017 - 07/2005)
9.	Benfante, Roberta: 5 articles (04/2022 - 02/2013)
10.	Kasi, Ajay S: 5 articles (01/2022 - 07/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital central hypoventilation syndrome:

1.	Oxygen (Dioxygen)IBA 02/01/2014 - "The late-onset congenital central hypoventilation syndrome in this case had onset of symptoms at 2 years of age, he had normal breathing while he was awake but had oxygen desaturation and CO2 retention during sleep, therefore, respiratory support is required in severe cases. " 12/01/1992 - "[A case of primary alveolar hypoventilation syndrome with a good response to nocturnal low-flow oxygen inhalation and negative pressure ventilation]." 03/01/1968 - "[Primary alveolar hypoventilation syndrome with paradoxical response to oxygen]." 08/01/1995 - "We report on a young woman suffering from primary alveolar hypoventilation, who presented with limitation of daytime activities, severe oxygen desaturation during sleep, polycythaemia and pulmonary hypertension. " 06/01/1982 - "Beneficial effect of oxygen in primary alveolar hypoventilation with central sleep apnea."
2.	polyalanineIBA 03/19/2021 - "Paired-like homeobox 2B genetic studies showed a novel non-polyalanine repeat mutation (c.429+1G>A) establishing the diagnosis of congenital central hypoventilation syndrome (CCHS). " 08/01/2006 - "No significant association was found between the number of polyalanine repeats in the PHOX2B genotypic category and dermatoglyphic pattern frequencies in the congenital central hypoventilation syndrome study groups. " 01/01/2022 - "Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene." 03/01/2018 - "Congenital central hypoventilation syndrome (CCHS) is a genetically inherited disorder caused by mutations in the paired-like homeobox 2B (PHOX2B) gene of polyalanine repeat mutations in the 20-alanine repeat or non-polyalanine repeat mutations. " 07/15/2017 - "Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation."
3.	Glucose (Dextrose)FDA LinkGeneric 12/19/2018 - "Dysregulated glucose homeostasis in congenital central hypoventilation syndrome." 04/01/2013 - "Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome." 01/01/2013 - "This study provides new information about glucose homeostasis in congenital central hypoventilation syndrome, revealing a high incidence of hyperglycemia and expanding the spectrum of the disease. "
4.	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 01/01/2005 - "Genetic mutations affecting signaling by glial cell line-derived neurotrophic factor (GDNF) perturb development of breathing in mice and are associated with congenital central hypoventilation syndrome in humans. " 11/01/2005 - "Cerebrospinal fluid samples were collected from three infants suffering from idiopathic congenital central hypoventilation syndrome and 15 control subjects with obstructive hydrocephalus to measure the expression of brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor using an immunoenzymatic assay. " 11/01/2005 - "This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syndrome. "
5.	Brain-Derived Neurotrophic Factor (BDNF)IBA 11/01/2005 - "The reduced expression of brain-derived neurotrophic factor in the cerebrospinal fluid samples of infants with Ondine's curse, although not statistically significant, is suggestive of a dysregulation in the brain-derived neurotrophic factor synthesis that could play an important role in the breathing disorders observed in patients with idiopathic congenital central hypoventilation syndrome." 02/01/2002 - "Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation." 11/01/2005 - "Cerebrospinal fluid samples were collected from three infants suffering from idiopathic congenital central hypoventilation syndrome and 15 control subjects with obstructive hydrocephalus to measure the expression of brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor using an immunoenzymatic assay. " 11/01/2005 - "This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syndrome. "
6.	Nerve Growth Factor (NGF)IBA 11/01/2005 - "Cerebrospinal fluid samples were collected from three infants suffering from idiopathic congenital central hypoventilation syndrome and 15 control subjects with obstructive hydrocephalus to measure the expression of brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor using an immunoenzymatic assay. " 11/01/2005 - "This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syndrome. "
7.	Nerve Growth Factors (Neurotrophins)IBA 11/01/2005 - "This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syndrome. "
8.	Clostridium perfringens epsilon-toxinIBA 01/01/2021 - "Previous studies have shown evidence of hypoxemia and hypercapnia during cardiopulmonary exercise test (CPET) evaluation in children with congenital central hypoventilation syndrome (CCHS). "
9.	NBPhox proteinIBA 11/17/2022 - "Mutations in the transcription factor Phox2b cause congenital central hypoventilation syndrome (CCHS). " 01/01/2021 - "Congenital central hypoventilation syndrome (CCHS) represents a rare genetic disorder usually caused by mutations in the homeodomain transcription factor PHOX2B. " 08/01/2015 - "Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. " 04/27/2022 - "Heterozygous mutations of the transcription factor PHOX2B are responsible for Congenital Central Hypoventilation Syndrome, a neurological disorder characterized by inadequate respiratory response to hypercapnia and life-threatening hypoventilation during sleep. " 01/01/2018 - "Anesthetic agents have been implicated in the causation of neurological and cognitive deficits after surgery, the exacerbation of chronic neurodegenerative disease, and were recently reported to promote the onset of the neurologic respiratory disease Congenital Central Hypoventilation Syndrome (CCHS), related to misfolding of the transcription factor Phox2B. "
10.	Anesthetics (Anesthetic Agents)IBA 01/01/2017 - "Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature." 01/01/2009 - "to describe a family with later onset congenital central hypoventilation syndrome (LO-CCHS) and heterozygosity for a 24-polyalanine repeat expansion mutation in the PHOX2B gene, rendered phenotypically apparent with exposure to anesthetics. " 01/01/2004 - "Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment." 11/01/2018 - "We aimed to describe the anesthetic management of Congenital Central Hypoventilation Syndrome and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation patients undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation and the nature and incidence of perioperative complications. " 11/01/2018 - "Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation."

Therapies and Procedures

1.	Therapeutics 04/01/1999 - "Eight children with congenital central hypoventilation syndrome (CCHS) (aged 3 to 16 years) underwent repeated polysomnographic recordings (sleep-EEG, induction plethysmography, PtcO2, PtcCO2, PACO2, FO2, SaO2, ECG) during spontaneous breathing and during therapy. " 04/01/1999 - "[Sleep-phase-related home therapy in congenital central hypoventilation syndrome (CCHS)]." 01/01/1996 - "[Continuous ambulatory monitoring in quality control of home therapy of congenital central hypoventilation syndrome (CCHS)]." 06/09/1979 - "This form of therapy seems to be a practical clinical method of managing chronic ventilatory failure in patients with lesions of the upper cervical cord or primary alveolar hypoventilation." 12/01/2020 - "The role of NiPPV therapy in select rare conditions (spinal muscular atrophy, congenital central hypoventilation syndrome, cerebral palsy, scoliosis, and Chiari malformations) is also reviewed."
2.	Tracheostomy 04/01/1999 - "[From tracheostomy to non-invasive mask ventilation: a study in children with congenital central hypoventilation syndrome]." 08/01/1995 - "Sleep studies showed congenital central hypoventilation syndrome, and the patient underwent a tracheostomy. " 12/15/2020 - "We report a 14-year-old boy with congenital central hypoventilation syndrome who uses DP with an uncapped tracheostomy during sleep. " 01/01/2015 - "Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients." 01/01/2022 - "Strategy of changing from tracheostomy and non-invasive mechanical ventilation to diaphragm pacing in children with congenital central hypoventilation syndrome."
3.	Artificial Respiration (Mechanical Ventilation) 07/01/2006 - "Mechanical ventilation support and diaphragm pacing has improved the prognosis of patients with idiopathic congenital central hypoventilation syndrome (CCHS; Ondine's curse). " 11/25/2023 - "Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands." 11/01/2020 - "The 26-item electronic questionnaire included questions on congenital central hypoventilation syndrome genotype; number and outcome of pregnancies; use of mechanical ventilation; and issues with or adjustments made to ventilation during pregnancy, delivery, and the postpartum period. " 06/25/2015 - "Due to the economic downturn in Thailand, two baby girls with congenital central hypoventilation syndrome had to wait for several months to obtain definite diagnosis and long-term mechanical ventilation. " 09/15/2011 - "Patients suffering from congenital central hypoventilation syndrome (CCHS) depend on mechanical ventilation during sleep, from birth and throughout life. "
4.	General Anesthesia 12/01/2011 - "Late onset congenital central hypoventilation syndrome after exposure to general anesthesia." 01/01/2023 - "Patients with congenital central hypoventilation syndrome (CCHS) have autonomic dysfunction and lack ventilatory responses to hypoxemia and hypercarbia and thus are prone to adverse events during general anesthesia. The objective of this study was to describe the perioperative outcomes of patients with CCHS who were undergoing diaphragm pacer (DP) implantation surgeries under general anesthesia. "
5.	Anesthesia 05/01/2000 - "The objective of this study was to determine whether subjects with congenital central hypoventilation syndrome (CCHS) had an increased frequency of cardiac arrhythmias and decreased heart rate variability when compared to subjects without a known deficit in control of breathing, and that these abnormalities would be exaggerated by anesthesia. "