Hypoventilation syndromes

The American Academy of Sleep Medicine has published criteria for the diagnosis of sleep-related breathing disorders.[1]American Academy of Sleep Medicine. International classification of sleep disorders. 3rd ed, text revision. Darien, IL: American Academy of Sleep Medicine; 2023.​ See also Central sleep apnea.

Obesity hypoventilation syndrome

• Hypoventilation is present during wakefulness (PaCO₂ ≥45 mmHg), as measured by arterial PCO₂, end-tidal PCO₂, or transcutaneous PCO₂. Sleep-related hypoventilation is inferred.

• Obesity is present (body mass index ≥30 kg/m²; ≥95th percentile for age and sex for children).

• Hypoventilation is not primarily due to lung parenchymal or airway disease, chest wall disorder (other than mass loading from obesity), medication use, neurologic disorder, muscle weakness, or a known congenital or idiopathic central alveolar hypoventilation syndrome.

Congenital central alveolar hypoventilation syndrome

• Sleep-related hypoventilation is present.

• Central nervous system autonomic dysfunction is present, usually due to a PHOX2B gene mutation.

• The disorder is not better explained by another sleep disorder, medical disorder, or medication/substance use.

Idiopathic central alveolar hypoventilation

• Sleep-related hypoventilation is present.

• Hypoventilation is not primarily due to lung parenchymal or airway disease, chest wall disorder, medication use, neurologic disorder, muscle weakness, obesity, or congenital hypoventilation syndromes.

Sleep-related hypoventilation due to a medical disorder

• Sleep-related hypoventilation is present.

• A lung parenchymal or airway disease, chest wall disorder, neurologic disorder, or muscle weakness is believed to be the primary cause of hypoventilation.

• Hypoventilation is not primarily due to obesity hypoventilation syndrome, medication use, or a known congenital central alveolar hypoventilation syndrome.