Congenital central alveolar hypoventilation syndrome
ICD-10 G47.35 is a billable code used to indicate a diagnosis of congenital central alveolar hypoventilation syndrome.
Congenital central alveolar hypoventilation syndrome (CCAHS) is a rare genetic disorder characterized by the impaired automatic control of breathing, particularly during sleep. Patients with CCAHS typically exhibit hypoventilation, leading to decreased oxygen levels and increased carbon dioxide levels in the blood, especially during sleep. This condition is often diagnosed in infancy or early childhood, as affected individuals may present with cyanosis, lethargy, or failure to thrive. The syndrome is caused by mutations in the PHOX2B gene, which plays a crucial role in the development of the autonomic nervous system and respiratory control. Diagnosis is confirmed through clinical evaluation, polysomnography (sleep study), and genetic testing. Management includes the use of ventilatory support during sleep, such as bilevel positive airway pressure (BiPAP) or continuous positive airway pressure (CPAP), to maintain adequate ventilation and prevent complications such as pulmonary hypertension and cor pulmonale. Long-term follow-up is essential to monitor respiratory function and adjust treatment as necessary.
Detailed history of respiratory symptoms, family history of genetic disorders, and results of sleep studies.
Infants presenting with unexplained cyanosis or lethargy during sleep.
Consideration of developmental milestones and potential co-morbidities.
Comprehensive pulmonary function tests, sleep study interpretations, and treatment plans.
Children with known genetic mutations presenting for follow-up on ventilatory support.
Monitoring for complications such as pulmonary hypertension.
Used to diagnose CCAHS by assessing sleep-related hypoventilation.
Results of the sleep study must be documented, including any interventions used.
Pediatric pulmonologists often perform these studies.
The primary cause of CCAHS is mutations in the PHOX2B gene, which affects the development of the autonomic nervous system and respiratory control.
