Central alveolar hypoventilation

Bharati Prasad MD (Dr. Prasad of the University of Illinois at Chicago has no relevant financial relationships to disclose.)
Antonio Culebras MD, editor. (Dr. Culebras of SUNY Upstate Medical University has no relevant financial relationships to disclose.)
Originally released October 1, 1993; last updated August 28, 2014; expires August 28, 2017

This article includes discussion of central alveolar hypoventilation, Ondine's curse, failure of automatic respiration, and late-onset central hypoventilation. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

The author explains the basics of central alveolar hypoventilation syndrome. Central alveolar hypoventilation may be congenital or idiopathic. Congenital hypoventilation presents during the first year of life, when respiratory failure in a neonate requires mechanical ventilation. Abnormal blood gases with hypercapnia is a hallmark for this condition. In infants with the congenital syndrome, early use of noninvasive positive pressure (nasal bilevel) decreases complications compared to prolonged artificial ventilation or tracheostomy. New evidence is emerging in central congenital hypoventilation syndrome regarding structural changes within the central nervous system. The idiopathic form is characterized by decreased alveolar ventilation that leads to nocturnal hypercapnia in individuals who have no lung disease, obesity, skeletal malformation, or neuromuscular disorder to account for the hypoventilation. Besides these 2 forms, central hypoventilation has also been reported as an acquired form that occurs in all ages and is associated with structural central nervous system disease.

Key points

 

• Central alveolar hypoventilation is congenital (genetic), or acquired (idiopathic or secondary).

 

• The underlying neurologic disorder is abnormal sensing and integration of afferent signals of metabolic derangement (hypercapnia and hypoxemia).

 

• A thorough evaluation for identifiable neuromuscular, cardiopulmonary, and skeletal causes of hypoventilation should be performed in all cases.

 

• Genetic testing and neurologic imaging are indicated in many cases.

 

• Early diagnosis and initiation of nocturnal noninvasive positive pressure ventilation is a key therapeutic strategy.

Historical note and terminology

Central alveolar hypoventilation is often described in 2 forms: congenital and idiopathic. Congenital central alveolar hypoventilation syndrome (CCHS) was first described in 1970 and was found to have a familial and genetic basis; it has been linked to autonomic nervous system dysfunction. A full description is found in the 2014 International Classification of Sleep Disorders – Third Edition (ICSD-3) under the name Congenital Central Alveolar Hypoventilation Syndrome (American Academy of Sleep Medicine 2014). An older term is Ondine's curse, which was coined earlier in1962 in 3 adult patients with high cervical and brainstem lesions following surgeries. According to German mythology, Ondine, a water nymph, was in love with a knight named Hans. After Hans jilted her, Ondine cursed him in retaliation, depriving him of the ability to breathe automatically. When he finally fell asleep, Hans stopped breathing and died. Ondine's curse properly refers only to the condition where hypoventilation is restricted to the sleeping state.

The idiopathic form of central alveolar hypoventilation is also described in the ICSD-3 under Sleep-Related Nonobstructive Alveolar Hypoventilation, Idiopathic. It is characterized by blunted chemoresponsiveness in the absence of identifiable abnormalities (pulmonary, cardiac, neurologic, or muscular). When hypoventilation occurs during the day (in addition to nocturnal sleep), the condition is referred to as idiopathic (primary) alveolar hypoventilation.

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