Esophageal atresia: Difference between revisions

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==Historical Perspective==
==Historical Perspective==
*[[Esophageal atresia]] was first discovered by [[William Durston]], in [[1670]] in one of the [[conjoined twins]]. <ref>{{cite journal|title=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|journal=Philosophical Transactions of the Royal Society of London|volume=5|issue=65|year=1997|pages=2096–2098|issn=0261-0523|doi=10.1098/rstl.1670.0066}}</ref>.
*[[Esophageal atresia]] was first discovered by [[William Durston]], in [[1670]] in one of the [[conjoined twins]]. <ref>{{cite journal|title=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|journal=Philosophical Transactions of the Royal Society of London|volume=5|issue=65|year=1997|pages=2096–2098|issn=0261-0523|doi=10.1098/rstl.1670.0066}}</ref>.
[[Thomas Gibson]] described [[proximal esophageal atresia]] with [[distal tracheo-esophageal fistula]] in 1697. While [[Thomas Hill]] presented a case of [[esophageal atresia]] with [[rectal agenesis]] in 1840.<ref name="Myers1986">{{cite journal|last1=Myers|first1=N. A.|title=The History of Oesophageal Atresia and Tracheo-Oesophageal Fistula — 1670–1984|volume=20|year=1986|pages=106–157|issn=0079-6654|doi=10.1007/978-3-642-70825-1_12}}</ref>
*[[Thomas Gibson]] described [[proximal esophageal atresia]] with [[distal tracheo-esophageal fistula]] in 1697. While [[Thomas Hill]] presented a case of [[esophageal atresia]] with [[rectal agenesis]] in 1840.<ref name="Myers1986">{{cite journal|last1=Myers|first1=N. A.|title=The History of Oesophageal Atresia and Tracheo-Oesophageal Fistula — 1670–1984|volume=20|year=1986|pages=106–157|issn=0079-6654|doi=10.1007/978-3-642-70825-1_12}}</ref>


==Classification==
==Classification==
*[[Esophageal atresia]] may be classified according to [[presence or location of tracheo-esophageal fistula]] into [5] subtypes:
*[[Esophageal atresia]] may be classified according to [[presence or location of tracheo-esophageal fistula]] into [5] subtypes:<ref name="Spitz2007">{{cite journal|last1=Spitz|first1=Lewis|title=Oesophageal atresia|journal=Orphanet Journal of Rare Diseases|volume=2|issue=1|year=2007|issn=1750-1172|doi=10.1186/1750-1172-2-24}}</ref>
 
:*[[Esophageal atresia without tracheo-esophageal fistula]] also known as [[Gross type A]].
:*[[Esophageal atresia without tracheo-esophageal fistula]] also known as [[Gross type A]].
:*[[Esophageal atresia with proximal tracheo-esophageal fistula]] also known as [[Gross type B]].
:*[[Esophageal atresia with proximal tracheo-esophageal fistula]] also known as [[Gross type B]].
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==Pathophysiology==
==Pathophysiology==
*The pathogenesis of [[esophageal atresia]] is characterized by abnormalities during [[embryonic foregut]] development.
*The pathogenesis of [[esophageal atresia]] is characterized by abnormalities during [[embryonic foregut]] development.
*The [[Nkx2.1]] and [[SOX2]] genes have been associated with the development of [[esophageal atresia]]. [[Nks2.1]] and [[SOX2]] are [[transcription factors]] involved in the formation of normal [[esophagus]] and [[trachea]] from embryonic foregut. The activity of these [[transcription factors]] is precisely regulated by [[NOGGIN]] ([[BMP-4 anatgonist]]) and [[WNT]] protein. Any abnormality in these [[genes]] or signaling pathways can hinder the normal development of [[trachea]] and [[esophagus]]. [[Sonic hedgehog]] is another signaling pathway involved in [[embryonic foregut]] [[differentiation]]. The main function of [[sonic hedgehog]] is to regulate [[FOX]] genes. Abnormal expression of [[FOXF1]] gene has been associated with [[esophageal atresia]]. In animal models, retinoic acid signaling abnormalities have also been associated with abnormal foregut differentiation, although this association has not been confirmed in humans. Role of [[adriamycin]] in the development of esophageal atresia has been studied in animal models. Adriamycin can lead to esophageal atresia in rats but the mechanism remains unclear. Defective [[apoptosis]] in [[foregut]] and abnormalities in [[notochord]] have been proposed as potential mechanisms for the development of [[esophageal atresia]] by [[adriamycin]] use.
*The [[Nkx2.1]] and [[SOX2]] genes have been associated with the development of [[esophageal atresia]]. [[Nks2.1]] and [[SOX2]] are [[transcription factors]] involved in the formation of normal [[esophagus]] and [[trachea]] from embryonic foregut. The activity of these [[transcription factors]] is precisely regulated by [[NOGGIN]] ([[BMP-4 anatgonist]]) and [[WNT]] protein. Any abnormality in these [[genes]] or signaling pathways can hinder the normal development of [[trachea]] and [[esophagus]]. <ref name="pmid16916379">{{cite journal |vauthors=Que J, Choi M, Ziel JW, Klingensmith J, Hogan BL |title=Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps |journal=Differentiation; Research in Biological Diversity |volume=74 |issue=7 |pages=422–37 |date=September 2006 |pmid=16916379 |doi=10.1111/j.1432-0436.2006.00096.x |url= |issn=}}</ref> <ref name="pmid17522155">{{cite journal |vauthors=Que J, Okubo T, Goldenring JR, Nam KT, Kurotani R, Morrisey EE, Taranova O, Pevny LH, Hogan BL |title=Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm |journal=Development (Cambridge, England) |volume=134 |issue=13 |pages=2521–31 |date=July 2007 |pmid=17522155 |pmc=3625644 |doi=10.1242/dev.003855 |url= |issn=}}</ref> [[Sonic hedgehog]] is another signaling pathway involved in [[embryonic foregut]] [[differentiation]]. The main function of [[sonic hedgehog]] is to regulate [[FOX]] genes. Abnormal expression of [[FOXF1]] gene has been associated with [[esophageal atresia]].<ref name="pmid9731532">{{cite journal |vauthors=Litingtung Y, Lei L, Westphal H, Chiang C |title=Sonic hedgehog is essential to foregut development |journal=Nature Genetics |volume=20 |issue=1 |pages=58–61 |date=September 1998 |pmid=9731532 |doi=10.1038/1717 |url= |issn=}}</ref> <ref name="pmid19822228">{{cite journal |vauthors=Shaw-Smith C |title=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 |journal=European Journal of Medical Genetics |volume=53 |issue=1 |pages=6–13 |date=2010 |pmid=19822228 |pmc=2809919 |doi=10.1016/j.ejmg.2009.10.001 |url= |issn=}}</ref> In animal models, retinoic acid signaling abnormalities have also been associated with abnormal foregut differentiation, although this association has not been confirmed in humans. <ref name="pmid7607068">{{cite journal |vauthors=Mendelsohn C, Lohnes D, Décimo D, Lufkin T, LeMeur M, Chambon P, Mark M |title=Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants |journal=Development (Cambridge, England) |volume=120 |issue=10 |pages=2749–71 |date=October 1994 |pmid=7607068 |doi= |url= |issn=}}</ref> Role of [[adriamycin]] in the development of esophageal atresia has been studied in animal models. Adriamycin can lead to esophageal atresia in rats but the mechanism remains unclear. Defective [[apoptosis]] in [[foregut]] and abnormalities in [[notochord]] have been proposed as potential mechanisms for the development of [[esophageal atresia]] by [[adriamycin]] use.<ref name="pmid24057779">{{cite journal |vauthors=Qi B, Diez-Pardo JA, Navarro C, Tovar JA |title=Narrowing the embryologic window of the adriamycin-induced fetal rat model of esophageal atresia and tracheoesophageal fistula |journal=Pediatric Surgery International |volume=11 |issue=7 |pages=444–7 |date=August 1996 |pmid=24057779 |doi=10.1007/BF00180079 |url= |issn=}}</ref>


==Causes==
==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]].
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]]. <ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192/ |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref> <ref name="pmid17336605">{{cite journal |vauthors=Felix JF, Tibboel D, de Klein A |title=Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula |journal=European Journal of Medical Genetics |volume=50 |issue=3 |pages=163–75 |date=2007 |pmid=17336605 |doi=10.1016/j.ejmg.2006.12.004 |url= |issn=}}</ref>


==Differentiating [[esophageal atresia]] from other Diseases==
==Differentiating [[esophageal atresia]] from other Diseases==
*[[Esophageal atresia]] must be differentiated from other diseases that may cause [[dysphagia]], [[aspiration]], such as:
*[[Esophageal atresia]] must be differentiated from other diseases that may cause [[dysphagia]], [[aspiration]], such as:<ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192/ |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref>
:*[[Esophageal webs]]
:*[[Esophageal webs]]
:*[[Esophageal stricture]]
:*[[Esophageal stricture]]
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==Epidemiology and Demographics==
==Epidemiology and Demographics==
* The prevalence of [[esophageal atresia]] is approximately [1.3-4.6] per 100,000 births worldwide.
* The prevalence of [[esophageal atresia]] is approximately [1.3-4.6] per 100,000 births worldwide.<ref name="pmid22247246">{{cite journal |vauthors=Pedersen RN, Calzolari E, Husby S, Garne E |title=Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions |journal=Archives of Disease in Childhood |volume=97 |issue=3 |pages=227–32 |date=March 2012 |pmid=22247246 |doi=10.1136/archdischild-2011-300597 |url= |issn=}}</ref> <ref name="pmid22945024">{{cite journal |vauthors=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 |title=Prevalence of esophageal atresia among 18 international birth defects surveillance programs |journal=Birth Defects Research. Part a, Clinical and Molecular Teratology |volume=94 |issue=11 |pages=893–9 |date=November 2012 |pmid=22945024 |pmc=4467200 |doi=10.1002/bdra.23067 |url= |issn=}}</ref>


   
   
===Age===
===Age===


*[[Esophageal atresia]] is a [[congenita]] defect. It may be diagnosed prenatally or postnatally.
*[[Esophageal atresia]] is a [[congenital]] defect. It may be diagnosed prenatally or postnatally.


===Gender===
===Gender===
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==Risk Factors==
==Risk Factors==
*Common risk factors in the development of [[esophageal atresia]] are [[genetic mutations]], [[chromosomal anormalities]], maternal [[alcohol]] consumption, maternal [[smoking]], maternal use of [[methimazole]], maternal exposure to exogenous [[sex hormones]], [[vitamin A deficiency]].
*Common risk factors in the development of [[esophageal atresia]] are [[genetic mutations]], [[chromosomal anormalities]], maternal [[alcohol]] consumption, maternal [[smoking]], maternal use of [[methimazole]], maternal exposure to exogenous [[sex hormones]], [[vitamin A deficiency]]. <ref name="pmid11745832">{{cite journal |vauthors=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 |title=Adverse effects of prenatal methimazole exposure |journal=Teratology |volume=64 |issue=5 |pages=262–6 |date=November 2001 |pmid=11745832 |doi=10.1002/tera.1072 |url= |issn=}}</ref><ref name="pmid55633">{{cite journal |vauthors=Nora JJ, Nora AH, Perinchief AG, Ingram JW, Fountain AK, Peterson MJ |title=Letter: Congenital abnormalities and first-trimester exposure to progestagen/oestrogen |journal=Lancet (London, England) |volume=1 |issue=7954 |pages=313–4 |date=February 1976 |pmid=55633 |doi=10.1016/s0140-6736(76)91455-0 |url= |issn=}}</ref><ref name="pmid18985694">{{cite journal |vauthors=Wong-Gibbons DL, Romitti PA, Sun L, Moore CA, Reefhuis J, Bell EM, Olshan AF |title=Maternal periconceptional exposure to cigarette smoking and alcohol and esophageal atresia +/- tracheo-esophageal fistula |journal=Birth Defects Research. Part a, Clinical and Molecular Teratology |volume=82 |issue=11 |pages=776–84 |date=November 2008 |pmid=18985694 |pmc=6042846 |doi=10.1002/bdra.20529 |url= |issn=}}</ref>


== Natural History, Complications and Prognosis==
== Natural History, Complications and Prognosis==
*If left untreated, large proportion of patients with [[esophageal atresia[] may progress to develop [[respiratory distress]], or  [[dehydration]], and  eventually die.
*If left untreated, a large proportion of patients with [[esophageal atresia]] may progress to develop [[respiratory distress]], or  [[dehydration]], and  eventually die soon after birth. <ref name="pmid31000707">{{cite journal |vauthors=van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP |title=Oesophageal atresia |journal=Nature Reviews. Disease Primers |volume=5 |issue=1 |pages=26 |date=April 2019 |pmid=31000707 |doi=10.1038/s41572-019-0077-0 |url= |issn=}}</ref>
*Common complications of [[esophageal atresia]] include [[GERD]], [[esophageal stricture]], [[tracheomalacia]], [[recurrent pulmonary infections]], [[airway hyperreactivity]], [[impaired lung function]].
*Common complications of [[esophageal atresia]] include [[GERD]], [[esophageal stricture]], [[tracheomalacia]], [[recurrent pulmonary infections]], [[airway hyperreactivity]], [[impaired lung function]], [[anastomotic leak from the surgical repair site]]. <ref name="AchildiGrewal2007">{{cite journal|last1=Achildi|first1=Olga|last2=Grewal|first2=Harsh|title=Congenital Anomalies of the Esophagus|journal=Otolaryngologic Clinics of North America|volume=40|issue=1|year=2007|pages=219–244|issn=00306665|doi=10.1016/j.otc.2006.10.010}}</ref><ref name="pmid7748088">{{cite journal |vauthors=Engum SA, Grosfeld JL, West KW, Rescorla FJ, Scherer LR |title=Analysis of morbidity and mortality in 227 cases of esophageal atresia and/or tracheoesophageal fistula over two decades |journal=Archives of Surgery (Chicago, Ill. : 1960) |volume=130 |issue=5 |pages=502–8; discussion 508–9 |date=May 1995 |pmid=7748088 |doi=10.1001/archsurg.1995.01430050052008 |url= |issn=}}</ref><ref name="pmid8374655">{{cite journal |vauthors=Spitz L |title=Esophageal atresia and tracheoesophageal fistula in children |journal=Current Opinion in Pediatrics |volume=5 |issue=3 |pages=347–52 |date=June 1993 |pmid=8374655 |doi=10.1097/00008480-199306000-00017 |url= |issn=}}</ref>
*Prognosis of untreated [[esophageal atresia]] is generally poor. A study assessed the survival of patients of [[esophageal atresia]] or [[tracheoesophageal fistula]] treated at a center over a period of 37 years. [[Survival rate]] in this study was 83%. This study also showed that [[survival rate]] of treated patients improved over time.
 
*Prognosis of untreated [[esophageal atresia]] is generally poor. A study assessed the survival of patients of [[esophageal atresia]] or [[tracheoesophageal fistula]] treated at a center over a period of 37 years. [[Survival rate]] in this study was 83%. This study also showed that [[survival rate]] of treated patients improved over time.<ref name="pmid10022146">{{cite journal |vauthors=Choudhury SR, Ashcraft KW, Sharp RJ, Murphy JP, Snyder CL, Sigalet DL |title=Survival of patients with esophageal atresia: influence of birth weight, cardiac anomaly, and late respiratory complications |journal=Journal of Pediatric Surgery |volume=34 |issue=1 |pages=70–3; discussion 74 |date=January 1999 |pmid=10022146 |doi=10.1016/s0022-3468(99)90231-2 |url= |issn=}}</ref>


== Diagnosis ==
== Diagnosis ==
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=== History and Symptoms ===
=== History and Symptoms ===
*Symptoms of [[esophageal atresia]] may include the following:
*Symptoms of [[esophageal atresia]] may include the following: <ref name="pmid31000707">{{cite journal |vauthors=van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP |title=Oesophageal atresia |journal=Nature Reviews. Disease Primers |volume=5 |issue=1 |pages=26 |date=April 2019 |pmid=31000707 |doi=10.1038/s41572-019-0077-0 |url= |issn=}}</ref><ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192/ |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref>
:*[[Drooling]]
:*[[Drooling]]
:*[[Dysphagia]]
:*[[Dysphagia]]
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=== Physical Examination ===
=== Physical Examination ===
*As [[esophageal atresia]] can be a feature of many syndromes so physical examination may be remarkable for:
*As [[esophageal atresia]] can be a feature of many syndromes so physical examination may be remarkable for:<ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192/ |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref><ref name="pmid31000707">{{cite journal |vauthors=van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP |title=Oesophageal atresia |journal=Nature Reviews. Disease Primers |volume=5 |issue=1 |pages=26 |date=April 2019 |pmid=31000707 |doi=10.1038/s41572-019-0077-0 |url= |issn=}}</ref>
:*[[respiratory distress]]
:*[[respiratory distress]]
:*[[Cardiac anomalies]]
:*[[Cardiac anomalies]]
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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]].
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]].<ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192/ |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref>


===Echocardiography or Ultrasound===
===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 absent[[stomach]] 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. 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. 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. 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]]. Echocardiography is recommended for all the patients with esophageal atresia, as it can be a manifestation of syndromes like [[CHARGE syndrome]], [[VACTERL]] association.
[[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 absent [[stomach]] 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.<ref name="pmid3051965">{{cite journal |vauthors=Pretorius DH, Gosink BB, Clautice-Engle T, Leopold GR, Minnick CM |title=Sonographic evaluation of the fetal stomach: significance of nonvisualization |journal=AJR. American Journal of Roentgenology |volume=151 |issue=5 |pages=987–9 |date=November 1988 |pmid=3051965 |doi=10.2214/ajr.151.5.987 |url= |issn=}}</ref> 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. <ref name="EyheremendyPfister1983">{{cite journal|last1=Eyheremendy|first1=Eduardo|last2=Pfister|first2=Martin|title=Antenatal real-time diagnosis of esophageal atresias|journal=Journal of Clinical Ultrasound|volume=11|issue=7|year=1983|pages=395–397|issn=00912751|doi=10.1002/jcu.1870110712}}</ref>
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.<ref name="pmid26058746">{{cite journal |vauthors=Spaggiari E, Faure G, Rousseau V, Sonigo P, Millischer-Bellaiche AE, Kermorvant-Duchemin E, Muller F, Czerkiewicz I, Ville Y, Salomon LJ |title=Performance of prenatal diagnosis in esophageal atresia |journal=Prenatal Diagnosis |volume=35 |issue=9 |pages=888–93 |date=September 2015 |pmid=26058746 |doi=10.1002/pd.4630 |url= |issn=}}</ref> 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]].<ref name="pmid31000707">{{cite journal |vauthors=van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP |title=Oesophageal atresia |journal=Nature Reviews. Disease Primers |volume=5 |issue=1 |pages=26 |date=April 2019 |pmid=31000707 |doi=10.1038/s41572-019-0077-0 |url= |issn=}}</ref> [[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. <ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192/ |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref>


===CT scan===
===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]].
[[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]]. <ref name="pmid11044052">{{cite journal |vauthors=Fitoz S, Atasoy C, Yagmurlu A, Akyar S, Erden A, Dindar H |title=Three-dimensional CT of congenital esophageal atresia and distal tracheoesophageal fistula in neonates: preliminary results |journal=AJR. American Journal of Roentgenology |volume=175 |issue=5 |pages=1403–7 |date=November 2000 |pmid=11044052 |doi=10.2214/ajr.175.5.1751403 |url= |issn=}}</ref>


===MRI===
===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.
[[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. <ref name="pmid29622396">{{cite journal |vauthors=Tracy S, Buchmiller TL, Ben-Ishay O, Barnewolt CE, Connolly SA, Zurakowski D, Phelps A, Estroff JA |title=The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia |journal=Journal of Pediatric Surgery |volume=53 |issue=6 |pages=1137–1141 |date=June 2018 |pmid=29622396 |doi=10.1016/j.jpedsurg.2018.02.073 |url= |issn=}}</ref><ref name="pmid25304819">{{cite journal |vauthors=Hochart V, Verpillat P, Langlois C, Garabedian C, Bigot J, Debarge VH, Sfeir R, Avni FE |title=The contribution of fetal MR imaging to the assessment of oesophageal atresia |journal=European Radiology |volume=25 |issue=2 |pages=306–14 |date=February 2015 |pmid=25304819 |doi=10.1007/s00330-014-3444-y |url= |issn=}}</ref>


===Other Imaging Findings===
===Other Imaging Findings===
Line 133: Line 136:


===Other Diagnostic Studies===
===Other Diagnostic Studies===
 
There are no other diagnostic studies associated with the [[esophageal atresia]].
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 ==
== Treatment ==
=== Medical Therapy ===
=== Medical Therapy ===
*There is no medical therapy for [[esophageal atresa]]; the mainstay of therapy is surgery.
*There is no medical therapy for [[esophageal atresia]]; the mainstay of therapy is surgery.


=== Surgery ===
=== Surgery ===
*Surgery is the mainstay of therapy for [[esophageal atresia]]. Preoperative management includes placement of [[replogle tube]] on continuous suction with patient in [[reverse Trendelenburg position]] to avoid [[aspiration]]. Oral feed should be stopped and patient should be put on [[parenteral nutrition]]. Surgical treatment of [[esophageal atresia]] involves [[anastomosis]] of both esophageal ends with repair of [[tracheoesophageal fistula]] if present. Commonly implied surgical approaches include [[extrapleural approach]], [[pleural approach]], [[thoracospcopic approach]]. Surgical repair may be difficult if the gap between the 2 esophageal segments is too large. In such cases, surgery is delayed by 2 to 9 months to permit esophageal growth until it is suitable to perform surgery. Other factors that can delay surgical repair of [[esophageal atresia]] include [[low birth weight]], [[preterm birth]], [[pneumonia]], significant [[congenital anomalies]] other than [[esophageal atresia]].
*Surgery is the mainstay of therapy for [[esophageal atresia]]. Preoperative management includes placement of [[replogle tube]] on continuous suction with patient in [[reverse Trendelenburg position]] to avoid [[aspiration]]. Oral feed should be stopped and patient should be put on [[parenteral nutrition]]. Surgical treatment of [[esophageal atresia]] involves [[anastomosis]] of both esophageal ends with repair of [[tracheoesophageal fistula]] if present. Commonly implied surgical approaches include [[extrapleural approach]], [[pleural approach]], [[thoracospcopic approach]]. Surgical repair may be difficult if the gap between the 2 esophageal segments is too large. In such cases, surgery is delayed by 2 to 9 months to permit esophageal growth until it is suitable to perform surgery. Other factors that can delay surgical repair of [[esophageal atresia]] include [[low birth weight]], [[preterm birth]], [[pneumonia]], significant [[congenital anomalies]] other than [[esophageal atresia]]. <ref name="pmid31000707">{{cite journal |vauthors=van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP |title=Oesophageal atresia |journal=Nature Reviews. Disease Primers |volume=5 |issue=1 |pages=26 |date=April 2019 |pmid=31000707 |doi=10.1038/s41572-019-0077-0 |url= |issn=}}</ref> <ref name="urlEsophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK5192 |title=Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf |author= |authorlink= |coauthors= |date= |format= |work= |publisher= |pages= |language= |archiveurl= |archivedate= |quote= |accessdate=}}</ref><ref name="pmid22875461">{{cite journal |vauthors=Friedmacher F, Puri P |title=Delayed primary anastomosis for management of long-gap esophageal atresia: a meta-analysis of complications and long-term outcome |journal=Pediatric Surgery International |volume=28 |issue=9 |pages=899–906 |date=September 2012 |pmid=22875461 |doi=10.1007/s00383-012-3142-2 |url= |issn=}}</ref>


=== Prevention ===
=== Prevention ===

Latest revision as of 05:14, 6 November 2020

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 absent stomach 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

  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 10.5 10.6 "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 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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