Choanal atresia

Choanal atresia is a congenital condition in which one or both of the choanae (the posterior nasal passages that connect the nasal cavity to the nasopharynx) are blocked by abnormal bony or membranous tissue. This obstruction prevents normal airflow through the nose. Because newborns are obligate nasal breathers, bilateral choanal atresia is a life-threatening emergency that presents at birth with cyclical cyanosis (turning blue) that worsens during feeding and improves with crying, as crying forces mouth breathing. Unilateral choanal atresia may go undetected until later in childhood, presenting with chronic unilateral nasal obstruction and discharge. Choanal atresia can occur as an isolated malformation or as part of a broader syndrome. The most well-known associated condition is CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth/development, genital abnormalities, and ear anomalies), caused by mutations in the CHD7 gene. Other associated anomalies may include craniofacial, cardiac, and genitourinary malformations. The condition affects the upper respiratory system and can secondarily impact feeding, oxygenation, and overall neonatal well-being. Diagnosis is typically confirmed by the inability to pass a catheter through the nasal passages and is further characterized by CT imaging of the nasal cavity and nasopharynx. Treatment is surgical, with the goal of creating a patent nasal airway. Transnasal endoscopic repair is the most commonly used approach, and stenting of the newly created passage may be employed to prevent restenosis. In bilateral cases, immediate airway management with an oral airway or endotracheal intubation is required prior to definitive surgical correction. Revision surgery may be necessary in some cases due to restenosis.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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