CHOANAL ATRESIA

Author
Ted L Tewfik, MD Professor of Otolaryngology-Head and Neck Surgery, Professor of Pediatric
Surgery, McGill University Faculty of Medicine; Senior Staff, Montreal Children's Hospital,
Montreal General Hospital, and Royal Victoria Hospital

BACKGROUND
Complete nasal obstruction in a newborn may cause death from asphyxia. During
attempted inspiration, the tongue is pulled to the palate, and obstruction of the oral airway
results. Vigorous respiratory efforts produce marked chest retraction. Increased cyanosis and
death may occur if appropriate treatments are not available; however, if the infant cries and takes
a breath through the mouth, the airway obstruction is momentarily relieved. Then the crying
stops, the mouth closes, and the cycle of obstruction is repeated.
Choanal atresia is depicted in the image below.

Choanal atresia. Rhinogram demonstrating blockage of radiopaque dye at the posterior

choanae. From T.L. Tewfik and V.M. Der Kaloustian, with permission.
HISTORY OF THE PROCEDURE
In 1755, Roederer first described congenital choanal atresia; therefore, this condition has
been recognized for more than 200 years. In 1854, Emmert reported the first successful surgical
procedure for congenital choanal atresia in a 7-year-old boy using a curved trocar transnasally.
Over the years, the necessity of serial dilatations to maintain patency of the choanae has been
clearly recognized.

EPIDEMIOLOGY
Frequency

The average rate of choanal atresia is 0.82 cases per 10,000 individuals. Unilateral atresia
occurs more frequently on the right side. The ratio of unilateral to bilateral cases is 2:1. A
slightly increased risk exists in twins. Maternal age or parity does not increase the frequency of
occurrence. Chromosomal anomalies are found in 6% of infants with choanal atresia. Five
percent of patients have monogenic syndromes or conditions.
Race: Choanal atresia occurs with equal frequency in people of all races.
Sex: More studies report significantly more females than males affected.

ETIOLOGY
The nasal cavities extend posteriorly during development under the influence of the
posteriorly directed fusion of the palatal processes. Thinning of the membrane occurs, which
separates the nasal cavities from the oral cavity. By the 38th day of development, the 2-layer
membrane consisting of nasal and oral epithelia ruptures and forms the choanae (posterior nares).
Failure of this rupture results in choanal atresia. Although these choanae are not in the same
location as the definitive choanae, which are eventually located more posteriorly, the
unexpectedly anterior extent of choanal atresia is explained.
In 2008, Barbero et al suggested that prenatal use of antithyroid (methimazole,
carbimazole) medications was linked to choanal atresia.[1]
Lee et al (2012) evaluated the association between continuous and categorical infant
T4 levels and nonsyndromic choanal atresia.[2] They suggest a role of low thyroid hormone levels
in the development of choanal atresia, or that low newborn T4 levels are potential proxy
measures of a risk factor present during the critical period of development.
 Using data published data from the National Birth Defects Prevention Study, Kancherla et al
(2014) found evidence linking choanal atresia to maternal exposure to various nutrients, thyroid
medications, and cigarettes. The investigators looked at prepregnancy exposures (within 1 year
prior to conception) and periconceptual exposure (between 1 month before and 3 months after
conception) in 117 women who gave birth to infants with choanal atresia and 8350 control
mothers. Positive associations were found between the following prepregnancy exposures and
choanal atresia[3] :
 Intake in the highest quartile: Vitamin B-12, zinc, niacin
 Intake in the lowest quartile: Methionine, vitamin D
 Coffee (≥ 3 cups per day)
Positive associations were also found between the following periconceptual exposures and
choanal atresia:
 Thyroid medications
 Cigarette smoking

PATHOPHYSIOLOGY
A number of theories have been proposed to explain the occurrence of choanal atresia, and
they can be summarized as follows:
 Persistence of the buccopharyngeal membrane
 Failure of the bucconasal membrane of Hochstetter to rupture
 Medial outgrowth of vertical and horizontal processes of the palatine bone
 Abnormal mesodermal adhesions forming in the choanal area
 Misdirection of mesodermal flow due to local factors

PRESENTATION
The clinical evaluation includes a complete physical examination to assess for other
congenital anomalies. A small feeding tube could be used to determine the patency of the
choana, but a complete nasal and nasopharyngeal examination should be performed using a
flexible fiberoptic endoscope to assess the deformity. A simple method using the automatic
tympanometer to screen newborns for congenital choanal atresia was recently published. The
 sensitivity and specificity of the technique in diagnosing a patent nostril was reported as 100%.
However, a high level of suspicion is required to diagnose bilateral choanal atresia.
Symptoms of severe airway obstruction and cyclical cyanosis are the classic signs of
neonatal bilateral atresia. When crying alleviates respiratory distress in an obligate nasal
breather, the neonatologist should be alerted to the probability of bilateral choanal atresia.
Unilateral atresia may not be detected for years, and patients may present with unilateral
rhinorrhea or congestion.
Many patients have an associated narrowed nasopharynx, widened vomer, medialized
lateral nasal wall, and/or arched hard palate. Associated malformations occur in 47% of infants
without chromosome anomalies. Nonrandom association of malformations can be demonstrated
using the CHARGE association, which appears to be overused in clinical practice. The
components of the CHARGE association are as follows:
 Coloboma of the iris, choroid, and/or microphthalmia
 Heart defect such as atrial septal defect (ASD) and/or conotruncal lesion
 Atresia of choanae
 Retarded growth and development
 Genitourinary abnormalities such as cryptorchidism, microphallus, and/or hydronephrosis
 Ear defects with associated deafness (The external, middle, and/or inner ear may be involved.
Only a small proportion of infants with choanal atresia and related components probably
represent this entity.)
The percentages of the different anomalies in CHARGE association are as follows:
 Coloboma - 80%
 Heart defect - 58%
 Atresia of choanae - 100%
 Mental retardation - 94%
 Growth deficiency - 87%
 Genital hypoplasia in males - 75%
 Ear anomalies - 88%
Differential diagnosis

Deviated nasal septum

Dislocated nasal septum
Septal hematoma
Mucosal swelling
Turbinate hypertrophy
Encephalocele
Nasal dermoid
Hamartoma
Chordoma
Teratoma
References
1. Barbero P, Valdez R, Rodríguez H, et al. Choanal atresia associated with maternal
hyperthyroidism treated with methimazole: a case-control study. Am J Med Genet A.
2008 Sep 15. 146A(18):2390-5.
2. Lee LJ, Canfield MA, Hashmi SS, Moffitt KB, Marengo L, Agopian AJ, et al.
Association between thyroxine levels at birth and choanal atresia or stenosis among
infants in Texas, 2004-2007. Birth Defects Res A Clin Mol Teratol. 2012 Nov.
94(11):951-4.
3. Kancherla V, Romitti PA, Sun L, et al. Descriptive and risk factor analysis for choanal
atresia: The National Birth Defects Prevention Study, 1997-2007. Eur J Med Genet. 2014
Feb 24.
4. Assanasen P, Metheetrairut C. Choanal atresia. J Med Assoc Thai. 2009 May. 92(5):699-
706.
5. Morokhoev VI. [Endonasal surgery of choanal atresia]. Vestn Otorinolaringol. 2010. 10-
5.
6. Hassan M, AboEl-Ezz T, Youssef T. Combined transoral-transnasal approach in the
repair of congenital posterior choanal atresia: clinical experience. J Otolaryngol Head
Neck Surg. 2011 Jun 1. 40(3):271-6.
7. Prasad M, Ward RF, April MM, Bent JP, Froehlich P. Topical mitomycin as an adjunct to
choanal atresia repair. Arch Otolaryngol Head Neck Surg. 2002 Apr. 128(4):398-400.
8. Carter JM, Lawlor C, Guarisco JL. The efficacy of mitomycin and stenting in choanal
atresia repair: a 20 year experience. Int J Pediatr Otorhinolaryngol. 2014 Feb. 78(2):307-
11.
9. Cedin AC, Fujita R, Cruz OL. Endoscopic transeptal surgery for choanal atresia with a
stentless folded-over-flap technique. Otolaryngol Head Neck Surg. 2006 Nov.
135(5):693-8.
10. Newman JR, Harmon P, Shirley WP, Hill JS, Woolley AL, Wiatrak BJ. Operative
management of choanal atresia: a 15-year experience. JAMA Otolaryngol Head Neck
Surg. 2013 Jan 1. 139(1):71-5.
11. Bedwell J, Shah RK, Bauman N, Zalzal GH, Preciado DA. Balloon dilation for
management of choanal atresia and stenosis. Int J Pediatr Otorhinolaryngol. 2011 Dec.
75(12):1515-8.
12. Al-Ammar AY. Presentation of choanal atresia in Saudi children. Saudi Med J. 2006
Nov. 27(11):1680-2.
13. Brown OE, Burns DK, Smith TH, Rutledge JC. Bilateral posterior choanal atresia: a
morphologic and histologic study, and computed tomographic correlation. Int J Pediatr
Otorhinolaryngol. 1987 Aug. 13(2):125-42.
14. Brown OE, Pownell P, Manning SC. Choanal atresia: a new anatomic classification and
clinical management applications. Laryngoscope. 1996 Jan. 106(1 Pt 1):97-101.
15. Cozzi F, Steiner M, Rosati D, Madonna L, Colarossi G. Clinical manifestations of
choanal atresia in infancy. J Pediatr Surg. 1988 Mar. 23(3):203-6.
16. Crockett DM, Scamman FL, McCabe BF, Lusk RP, Gray SD. Venturi jet ventilation for
microlaryngoscopy: technique, complications, pitfalls. Laryngoscope. 1987 Nov.
97(11):1326-30.
17. Deutsch E, Kaufman M, Eilon A. Transnasal endoscopic management of choanal
atresia. Int J Pediatr Otorhinolaryngol. 1997 May 4. 40(1):19-26. [Medline].
18. Effat KG. Use of the automatic tympanometer as a screening tool for congenital choanal
atresia. .J Laryngol Otol. 2005. 119:125-8.
19. Friedman NR, Mitchell RB, Bailey CM, Albert DM, Leighton SE. Management and
outcome of choanal atresia correction. Int J Pediatr Otorhinolaryngol. 2000 Jan 30.
52(1):45-51.
20. Hackman TG, Ferguson BJ. Powered instrumentation and tissue effects in the nose and
paranasal sinuses. Curr Opin Otolaryngol Head Neck Surg. 2005 Feb. 13(1):22-6.
21. Josephson GD, Vickery CL, Giles WC, Gross CW. Transnasal endoscopic repair of
congenital choanal atresia: long-term results. Arch Otolaryngol Head Neck Surg. 1998
May. 124(5):537-40.
22. Lazar RH, Younis RT. Transnasal repair of choanal atresia using telescopes. Arch
Otolaryngol Head Neck Surg. 1995 May. 121(5):517-20.
23. Panwar SS, Martin FW. Trans-nasal endoscopic holmium: YAG laser correction of
choanal atresia. J Laryngol Otol. 1996 May. 110(5):429-31.
24. Pasquini E, Sciarretta V, Saggese D, Cantaroni C, Macrì G, Farneti G. Endoscopic
treatment of congenital choanal atresia. Int J Pediatr Otorhinolaryngol. 2003 Mar.
67(3):271-6.
25. Schoem SR. Transnasal endoscopic repair of choanal atresia: why stent?. Otolaryngol
Head Neck Surg. 2004 Oct. 131(4):362-6.
26. Schoem SR. Undefined. Otolaryngol Head Neck Surg. 2004.
27. Schoem SR. Transnasal endoscopic repair of choanal atresia: why stent?. Otolaryngol
Head Neck Surg. 2004.
28. Vickery CL, Gross CW. Advanced drill technology in treatment of congenital choanal
atresia. Otolaryngol Clin North Am. 1997 Jun. 30(3):457-65.
29. Wiatrak BJ. Unilateral choanal atresia: initial presentation and endoscopic repair. Int J
Pediatr Otorhinolaryngol. 1998 Nov 15. 46(1-2):27-35.
30. Yaniv E, Hadar T, Shvero J, Stern Y, Raveh E. Endoscopic transnasal repair of choanal
atresia. Int J Pediatr Otorhinolaryngol. 2007 Mar. 71(3):457-62.
31. Zeitouni AG, Shapiro RS. Congenital anomalies of the nose and anterior skull base.
Tewfik TL, Der Kaloustian VM, eds. Congenital Anomalies of the Ear, Nose, and
Throat. New York, NY: Oxford University Press; 1997. 189-200.