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, contrast administration under fluoroscopic guidance can confirm the presence of esophageal atresia.[10]

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. [25]

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. [26][27]

Other Imaging Findings

There are no other imaging findings associated with esophageal atresia.

Other Diagnostic Studies

There are no other diagnostic studies associated with the esophageal atresia.

Treatment

Medical Therapy

Surgery

Prevention

References

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  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.
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  10. 10.0 10.1 10.2 10.3 10.4 10.5 10.6 "Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf".
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  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 17.4 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.
  25. Fitoz S, Atasoy C, Yagmurlu A, Akyar S, Erden A, Dindar H (November 2000). "Three-dimensional CT of congenital esophageal atresia and distal tracheoesophageal fistula in neonates: preliminary results". AJR. American Journal of Roentgenology. 175 (5): 1403–7. doi:10.2214/ajr.175.5.1751403. PMID 11044052.
  26. Tracy S, Buchmiller TL, Ben-Ishay O, Barnewolt CE, Connolly SA, Zurakowski D, Phelps A, Estroff JA (June 2018). "The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia". Journal of Pediatric Surgery. 53 (6): 1137–1141. doi:10.1016/j.jpedsurg.2018.02.073. PMID 29622396.
  27. Hochart V, Verpillat P, Langlois C, Garabedian C, Bigot J, Debarge VH, Sfeir R, Avni FE (February 2015). "The contribution of fetal MR imaging to the assessment of oesophageal atresia". European Radiology. 25 (2): 306–14. doi:10.1007/s00330-014-3444-y. PMID 25304819.
  28. Friedmacher F, Puri P (September 2012). "Delayed primary anastomosis for management of long-gap esophageal atresia: a meta-analysis of complications and long-term outcome". Pediatric Surgery International. 28 (9): 899–906. doi:10.1007/s00383-012-3142-2. PMID 22875461.

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