Related Experiment Video
Updated: Sep 7, 2025
Investigation into Deep Breathing through Measurement of Ventilatory Parameters and Observation of Breathing Patterns
Published on: September 16, 2019
A novel case of central hypoventilation syndrome or just heavy breathing?
Jacob McCoy1, Natalya Karp1,2, Jagraj Brar1
1Western University, Department of Paediatrics, Children's Hospital, London Health Sciences Centre, London, Ontario, Canada.
Insights
Pediatric obesity hypoventilation syndrome can lead to respiratory failure. A rare genetic deletion in the brain-derived neurotrophic factor gene may predispose children to this condition.
Area of Science:
- Pediatric Pulmonology
- Clinical Genetics
- Sleep Medicine
Background:
- Obesity hypoventilation syndrome (OHS) is an increasingly recognized complication in obese children, characterized by respiratory compromise.
- OHS presents with altered respiratory mechanics, sleep-disordered breathing, and impaired ventilatory control, leading to hypercapnia.
- Children with OHS may decompensate rapidly during respiratory infections, presenting as acute respiratory failure.
Observation:
- This report details one of the youngest pediatric patients diagnosed with OHS.
- The patient exhibited a genetic predisposition potentially linked to hypoventilation.
- A deletion in the brain-derived neurotrophic factor (BDNF) gene was identified as a possible contributor.
Findings:
- Genetic testing is crucial for understanding hypoventilation syndromes in children.
- Mutations in genes like PHOX2B are known causes of congenital central hypoventilation syndrome.
- This case suggests that BDNF gene deletions may also play a role in pediatric OHS phenotypes.
Implications:
- Early identification of genetic contributors to OHS can improve patient outcomes.
- Further research into the role of BDNF in respiratory control is warranted.
- This case expands the known genetic landscape associated with pediatric hypoventilation disorders.
Abstract:
With the growing prevalence of obesity in the pediatric population, reports of its severe complications are increasing. Obesity hypoventilation syndrome is an uncommon disorder in children with altered respiratory mechanics, sleep-disordered breathing, and impaired ventilatory responses leading to persistent hypercapnia. Presentation is varied, and children may remain relatively asymptomatic until challenged with a respiratory infection, when they may present with acute respiratory failure. With increasing use of genetic testing in pediatric patients, our knowledge of potential contributors to hypoventilation syndromes is growing. Although mutations in the paired-like homeobox 2B gene are known to be causative of congenital central hypoventilation syndrome, other genes may also contribute to hypoventilation phenotypes. We report one of the youngest reported patients with obesity hypoventilation syndrome in pediatrics, with a proposed congenital predisposition for central hypoventilation derived from a deletion in the brain-derived neurotrophic factor gene.
Citation:
McCoy J, Karp N, Brar J, Amin R, St-Laurent A. A novel case of central hypoventilation syndrome or just heavy breathing? J Clin Sleep Med. 2022;18(9):2321-2325.
Related Concept Videos
01:25Hyperpnea and Hyperventilation
01:30Alterations in Respiration II
In Biot's breathing, the respiratory rate and depth are irregular, alternating between periods of deep gasping and apnea. Common causes...
01:30Acute Respiratory Failure-III
01:23Acute Respiratory Failure-IV
01:21Acute Respiratory Failure-II
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
01:23Physiological Control of Respiration
Breathing, a seemingly passive process, is regulated by the respiratory center in the brainstem. This center coordinates the involuntary control of respirations, which means it occurs without conscious effort, ensuring a smooth and uninterrupted pattern.
Regulation of Ventilation
The body maintains ventilation by monitoring levels of carbon dioxide (CO2), oxygen (O2), and hydrogen ion concentration (pH) in the arterial blood. Among these factors, the level of CO2 plays a crucial...