Choanal atresia, bilateral

Bilateral choanal atresia is a congenital condition in which both posterior nasal passages (choanae) are blocked by abnormal bony or membranous tissue, preventing airflow from the nose to the nasopharynx. Because newborns are obligate nasal breathers, bilateral choanal atresia presents as a life-threatening neonatal emergency. Affected infants typically develop severe respiratory distress, cyclical cyanosis (turning blue) that worsens during feeding and improves with crying (as crying forces mouth breathing), and inability to pass a catheter through the nose. The condition primarily affects the upper respiratory system but can also impair feeding and growth if not promptly addressed. Bilateral choanal atresia may occur as an isolated malformation or as part of a broader syndrome, most notably CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth, genital abnormalities, and ear anomalies). When associated with CHARGE syndrome, mutations in the CHD7 gene are frequently identified. Isolated cases are generally considered sporadic, though familial occurrences have been reported. Diagnosis is confirmed by inability to pass a nasal catheter, nasal endoscopy, and CT imaging of the nasal passages. Immediate management involves securing the airway, often with an oral airway or endotracheal intubation. Definitive treatment is surgical correction, typically performed via a transnasal endoscopic approach, to create patent nasal passages. Stenting of the newly created choanal openings may be used postoperatively to prevent restenosis. Revision surgery is sometimes necessary due to the tendency for the passages to re-narrow. With appropriate surgical intervention, the long-term prognosis for isolated bilateral choanal atresia is generally favorable.

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