Esophageal atresia

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Esophageal atresia
ICD-10 Q39.0, Q39.1
ICD-9 750.3
DiseasesDB 30035
MeSH D004933

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Muneeb, MBBS[2] Synonyms and keywords: Esophageal Atresias; Atresia, Esophageal; Atresias, Esophageal

Overview

Esophageal atresia is the commonest congenital esophageal anomaly. In esophageal atresia there is a discontinuity between upper and lower esophagus. It is associated with multiple genetic and chromosomal abnormalities. Thus, it can present in multiple ways. Prenatal diagnosis is possible by using ultrasound or MRI, while x-ray is most commonly used for postnatal diagnosis of esophageal atresia. Definitive treatment involves surgical repair of the anomaly. In the absence of treatment prognosis is very poor.

Historical Perspective

Classification

Pathophysiology

Causes

Common causes of esophageal atresia include CHARGE syndrome, VACTERL, Fanconi anemia, AEG syndrome, Pallister hall syndrome, Feingold syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Trisomy X. [10] [11]

Differentiating esophageal atresia from other Diseases

Epidemiology and Demographics


Age

Gender


Race

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

There are no ECG findings associated with esophageal atresia.

X-ray

An x-ray may be helpful in the diagnosis of esophageal atresia. Usually, it is impossible to pass oral catheter beyond 10 to 15cm in esophageal atresia. Anterioposterior chest x-ray can confirm it by showing twisted catheter in the upper esophagus. Plain x-ray may also show absence of gastric bubble. If the diagnosis is unconfirmed, water-soluble contrast under fluoroscopic guidance can confirm the presence of esophageal atresia.

Echocardiography or Ultrasound

Ultrasound may be helpful in the antenatal diagnosis of esophageal atresia. Findings on an ultrasound suggestive of [esophageal atresia] include polyhydramnios from 24th week of gestation onwards, small or absentstomach bubble (indicating absence of fluid in stomach) from 14th week of gestation onwards. These findings are not specific for esophageal atresia and may be present in other congenital abnormalities.[22] Dilated esophagus with blind end is sometimes seen on ultrasound as an echoic area in the midline of fetal neck(pouch sign) from 3rd trimester onwards. [23]

Polyhydramnios and stomach bubble sign may be absent if distal tracheo-esophageal fistula is present with esophageal atresia as some amniotic fluid may pass through the fistula.[24] If esophageal atresia is accompanied by proximal tracheo-esophageal fistula then pouch sign may be difficult to observe owing to leakage of fluid through the fistula.[17] Echocardiography and renal ultrasound are recommended for all the patients with esophageal atresia, as it can be a manifestation of syndromes like CHARGE syndrome, VACTERL association. [10]

CT scan

Ct scan is not routinely used for diagnosis of esophageal atresia. When used, 3D Ct scan can provide detailed information regarding anatomic aspects of esophageal atresia.

MRI

Fetal MRI may be helpful in the diagnosis of [[esophageal atresia], as it can confirm the findings detected on ultrasound. In addition to polyhydramnios, pouch sign, bubble sign, MRI can also detect distended fetal hypopharynx sign which occurs as a consequence of hypopharynx distension because of obstruction.

Other Imaging Findings

There are no other imaging findings associated with esophageal atresia.

Other Diagnostic Studies

Postnatally,esophagogastroscopy may be helpful in the diagnosis of esophageal atresia. It is also helpful in evaluating the complications of esophageal atresia like GERD.

Treatment

Medical Therapy

  • There is no medical therapy for esophageal atresa; the mainstay of therapy is surgery.

Surgery

Prevention

References

  1. "A narrative of a monstrous birth in Plymouth, Octob. 22. 1670; together with the anatomical observations, taken thereupon by William Durston Doctor in Physick, and communicated to Dr. Tim. Clerk". Philosophical Transactions of the Royal Society of London. 5 (65): 2096–2098. 1997. doi:10.1098/rstl.1670.0066. ISSN 0261-0523.
  2. Myers, N. A. (1986). "The History of Oesophageal Atresia and Tracheo-Oesophageal Fistula — 1670–1984". 20: 106–157. doi:10.1007/978-3-642-70825-1_12. ISSN 0079-6654.
  3. Spitz, Lewis (2007). "Oesophageal atresia". Orphanet Journal of Rare Diseases. 2 (1). doi:10.1186/1750-1172-2-24. ISSN 1750-1172.
  4. Que J, Choi M, Ziel JW, Klingensmith J, Hogan BL (September 2006). "Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps". Differentiation; Research in Biological Diversity. 74 (7): 422–37. doi:10.1111/j.1432-0436.2006.00096.x. PMID 16916379.
  5. Que J, Okubo T, Goldenring JR, Nam KT, Kurotani R, Morrisey EE, Taranova O, Pevny LH, Hogan BL (July 2007). "Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm". Development (Cambridge, England). 134 (13): 2521–31. doi:10.1242/dev.003855. PMC 3625644. PMID 17522155.
  6. Litingtung Y, Lei L, Westphal H, Chiang C (September 1998). "Sonic hedgehog is essential to foregut development". Nature Genetics. 20 (1): 58–61. doi:10.1038/1717. PMID 9731532.
  7. Shaw-Smith C (2010). "Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature". European Journal of Medical Genetics. 53 (1): 6–13. doi:10.1016/j.ejmg.2009.10.001. PMC 2809919. PMID 19822228.
  8. Mendelsohn C, Lohnes D, Décimo D, Lufkin T, LeMeur M, Chambon P, Mark M (October 1994). "Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants". Development (Cambridge, England). 120 (10): 2749–71. PMID 7607068.
  9. Qi B, Diez-Pardo JA, Navarro C, Tovar JA (August 1996). "Narrowing the embryologic window of the adriamycin-induced fetal rat model of esophageal atresia and tracheoesophageal fistula". Pediatric Surgery International. 11 (7): 444–7. doi:10.1007/BF00180079. PMID 24057779.
  10. 10.0 10.1 10.2 10.3 10.4 "Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf".
  11. Felix JF, Tibboel D, de Klein A (2007). "Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula". European Journal of Medical Genetics. 50 (3): 163–75. doi:10.1016/j.ejmg.2006.12.004. PMID 17336605.
  12. Pedersen RN, Calzolari E, Husby S, Garne E (March 2012). "Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions". Archives of Disease in Childhood. 97 (3): 227–32. doi:10.1136/archdischild-2011-300597. PMID 22247246.
  13. Nassar N, Leoncini E, Amar E, Arteaga-Vázquez J, Bakker MK, Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, Csáky-Szunyogh M, Feldkamp ML, Khoshnood B, Landau D, Lelong N, López-Camelo JS, Lowry RB, McDonnell R, Merlob P, Métneki J, Morgan M, Mutchinick OM, Palmer MN, Rissmann A, Siffel C, Sìpek A, Szabova E, Tucker D, Mastroiacovo P (November 2012). "Prevalence of esophageal atresia among 18 international birth defects surveillance programs". Birth Defects Research. Part a, Clinical and Molecular Teratology. 94 (11): 893–9. doi:10.1002/bdra.23067. PMC 4467200. PMID 22945024.
  14. Di Gianantonio E, Schaefer C, Mastroiacovo PP, Cournot MP, Benedicenti F, Reuvers M, Occupati B, Robert E, Bellemin B, Addis A, Arnon J, Clementi M (November 2001). "Adverse effects of prenatal methimazole exposure". Teratology. 64 (5): 262–6. doi:10.1002/tera.1072. PMID 11745832.
  15. Nora JJ, Nora AH, Perinchief AG, Ingram JW, Fountain AK, Peterson MJ (February 1976). "Letter: Congenital abnormalities and first-trimester exposure to progestagen/oestrogen". Lancet (London, England). 1 (7954): 313–4. doi:10.1016/s0140-6736(76)91455-0. PMID 55633.
  16. Wong-Gibbons DL, Romitti PA, Sun L, Moore CA, Reefhuis J, Bell EM, Olshan AF (November 2008). "Maternal periconceptional exposure to cigarette smoking and alcohol and esophageal atresia +/- tracheo-esophageal fistula". Birth Defects Research. Part a, Clinical and Molecular Teratology. 82 (11): 776–84. doi:10.1002/bdra.20529. PMC 6042846. PMID 18985694.
  17. 17.0 17.1 17.2 17.3 van Lennep M, Singendonk M, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro S, Omari TI, Benninga MA, van Wijk MP (April 2019). "Oesophageal atresia". Nature Reviews. Disease Primers. 5 (1): 26. doi:10.1038/s41572-019-0077-0. PMID 31000707. Vancouver style error: initials (help)
  18. Achildi, Olga; Grewal, Harsh (2007). "Congenital Anomalies of the Esophagus". Otolaryngologic Clinics of North America. 40 (1): 219–244. doi:10.1016/j.otc.2006.10.010. ISSN 0030-6665.
  19. Engum SA, Grosfeld JL, West KW, Rescorla FJ, Scherer LR (May 1995). "Analysis of morbidity and mortality in 227 cases of esophageal atresia and/or tracheoesophageal fistula over two decades". Archives of Surgery (Chicago, Ill. : 1960). 130 (5): 502–8, discussion 508–9. doi:10.1001/archsurg.1995.01430050052008. PMID 7748088.
  20. Spitz L (June 1993). "Esophageal atresia and tracheoesophageal fistula in children". Current Opinion in Pediatrics. 5 (3): 347–52. doi:10.1097/00008480-199306000-00017. PMID 8374655.
  21. Choudhury SR, Ashcraft KW, Sharp RJ, Murphy JP, Snyder CL, Sigalet DL (January 1999). "Survival of patients with esophageal atresia: influence of birth weight, cardiac anomaly, and late respiratory complications". Journal of Pediatric Surgery. 34 (1): 70–3, discussion 74. doi:10.1016/s0022-3468(99)90231-2. PMID 10022146.
  22. Pretorius DH, Gosink BB, Clautice-Engle T, Leopold GR, Minnick CM (November 1988). "Sonographic evaluation of the fetal stomach: significance of nonvisualization". AJR. American Journal of Roentgenology. 151 (5): 987–9. doi:10.2214/ajr.151.5.987. PMID 3051965.
  23. Eyheremendy, Eduardo; Pfister, Martin (1983). "Antenatal real-time diagnosis of esophageal atresias". Journal of Clinical Ultrasound. 11 (7): 395–397. doi:10.1002/jcu.1870110712. ISSN 0091-2751.
  24. Spaggiari E, Faure G, Rousseau V, Sonigo P, Millischer-Bellaiche AE, Kermorvant-Duchemin E, Muller F, Czerkiewicz I, Ville Y, Salomon LJ (September 2015). "Performance of prenatal diagnosis in esophageal atresia". Prenatal Diagnosis. 35 (9): 888–93. doi:10.1002/pd.4630. PMID 26058746.

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