Overview
Choanal atresia is a congenital anomaly characterized by the obstruction of the posterior nasal passages, leading to breathing difficulties, feeding challenges, and potential association with various other congenital anomalies. 159Diagnosis
Key Diagnostic Criteria: Symptoms include nasal blockage, cyanosis during feeding, and choking episodes.
Recommended Tests:
- Nasal endoscopy or fiberoptic nasopharyngoscopy 1
- CT imaging for detailed anatomical assessment 1
Evaluation for Associated Anomalies: Comprehensive evaluation for CHARGE syndrome features (coloboma, heart defects, growth retardation, genital anomalies, ear abnormalities, deafness) 59Management
Primary Treatment: Transnasal endoscopic repair is the preferred surgical technique 1
Timing Considerations: Delay unilateral repair until at least 6 months of age if possible 1
Postoperative Care: Long-term follow-up using nasal endoscopy or nasofiberscopy, minimum follow-up period of one year 1
Comprehensive Evaluation: Before surgery, assess for associated conditions like cardiac malformations and deafness using modern electrophysiological methods 8Special Populations
Pregnancy: Maternal exposure to carbimazole for hyperthyroidism may increase risk of choanal atresia 2
Pediatrics: Early intervention is crucial; careful monitoring for associated anomalies like deafness and growth retardation 89
Comorbidities: Evaluate and manage associated conditions such as cardiac defects and deafness, considering surgical risks 8Key Recommendations
Utilize nasal endoscopy or fiberoptic nasopharyngoscopy and CT imaging for diagnosis of choanal atresia (Evidence: Strong 1)
Delay unilateral choanal atresia repair until at least 6 months of age when feasible (Evidence: Strong 1)
Employ transnasal endoscopic repair as the preferred surgical technique (Evidence: Strong 1)
Conduct long-term follow-up (minimum one year) using nasal endoscopy or nasofiberscopy without routine imaging (Evidence: Moderate 1)
Perform a thorough evaluation for associated anomalies, particularly cardiac malformations and deafness, before surgical intervention (Evidence: Moderate 8)
Consider maternal drug history, especially exposure to carbimazole, in cases of choanal atresia (Evidence: Moderate 2)
Recognize the potential for familial or syndromic associations, such as autosomal dominant conditions with neural crest defects (Evidence: Weak 3)References
1 Moreddu E, Rizzi M, Adil E, Balakrishnan K, Chan K, Cheng A et al.. International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care. International journal of pediatric otorhinolaryngology 2019. link
2 Myers AK, Reardon W. Choanal atresia - a recurrent feature of foetal carbimazole syndrome. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2005. link
3 Ramos-Arroyo MA, Valiente A, Rodriguez-Toral E, Alonso AM, Moreno S, Weaver DD. Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia. American journal of medical genetics 2000. link
4 Toriello HV, Higgins JV. A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?. Clinical dysmorphology 1999. link
5 Harris J, Robert E, Källén B. Epidemiology of choanal atresia with special reference to the CHARGE association. Pediatrics 1997. link
6 Har-El G, Borderon ML, Weiss MH. Choanal atresia and lymphedema. The Annals of otology, rhinology, and laryngology 1991. link
7 Greenberg F. Choanal atresia and athelia: methimazole teratogenicity or a new syndrome?. American journal of medical genetics 1987. link
8 Robier A, Ployet MJ, Loustalot B, Moraine C, Gold F, Laugier L. Choanal atresia and deafness. International journal of pediatric otorhinolaryngology 1986. link80045-3)
9 Kaplan LC. Choanal atresia and its associated anomalies. Further support for the CHARGE Association. International journal of pediatric otorhinolaryngology 1985. link80084-7)