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Tracheoesophageal fistula

MedGen UID:
348770
Concept ID:
C1861028
Disease or Syndrome
Synonyms: Esophageal atresia with or without tracheoesophageal fistula; Esophageal Atresia/Tracheoesophageal Fistula
 
Genes (locations): BRCA2 (13q13.1); BRIP1 (17q23.2); CHD7 (8q12.2); ERCC4 (16p13.12); FANCA (16q24.3); FANCB (Xp22.2); FANCC (9q22.32); FANCD2 (3p25.3); FANCE (6p21.31); FANCF (11p14.3); FANCG (9p13.3); FANCI (15q26.1); FANCL (2p16.1); FANCM (14q21.2); GLI3 (7p14.1); MID1 (Xp22.2); MYCN (2p24.3); PALB2 (16p12.2); RAD51C (17q22); SLX4 (16p13.3); SOX2 (3q26.33)
OMIM®: 189960

Disease characteristics

Esophageal atresia (EA) is a developmental defect of the upper gastrointestinal tract in which the continuity between the upper and lower esophagus is lost. EA can occur with or without tracheoesophageal fistula (TEF), an abnormal connection between the trachea and the esophagus. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes of EA/TEF  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Daryl A Scott   view full author information

Additional description

From GHR
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result.In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities.There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA).While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis). Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids.EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF).  https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula

Clinical features

Esophageal atresia
MedGen UID:
4545
Concept ID:
C0014850
Congenital Abnormality
Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.

Recent clinical studies

Etiology

Conforti A, Iacusso C, Valfrè L, Trozzi M, Bottero S, Bagolan P; Laryngotracheal Team Bambino Gesù Children's Hospital.
J Pediatr Surg 2016 Oct;51(10):1623-6. Epub 2016 Jun 21 doi: 10.1016/j.jpedsurg.2016.06.010. PMID: 27372236
Al-Salem AH, Mohaidly MA, Al-Buainain HM, Al-Jadaan S, Raboei E
Pediatr Surg Int 2016 May;32(5):487-91. Epub 2016 Feb 6 doi: 10.1007/s00383-016-3873-6. PMID: 26852298
Lelonge Y, Varlet F, Varela P, Saitúa F, Fourcade L, Gutierrez R, Vermesch S, Prades JM, Lopez M
Surg Endosc 2016 Apr;30(4):1662-6. Epub 2015 Jul 3 doi: 10.1007/s00464-015-4352-1. PMID: 26139499
Yalcin S, Demir N, Serel S, Soyer T, Tanyel FC
J Pediatr Surg 2015 Nov;50(11):1823-7. Epub 2015 Jul 3 doi: 10.1016/j.jpedsurg.2015.07.002. PMID: 26210818
Jiang P, Liu J, Yu D, Jie B, Jiang S
Cardiovasc Intervent Radiol 2015 Dec;38(6):1635-9. Epub 2015 Jun 6 doi: 10.1007/s00270-015-1147-7. PMID: 26048016

Diagnosis

Conforti A, Iacusso C, Valfrè L, Trozzi M, Bottero S, Bagolan P; Laryngotracheal Team Bambino Gesù Children's Hospital.
J Pediatr Surg 2016 Oct;51(10):1623-6. Epub 2016 Jun 21 doi: 10.1016/j.jpedsurg.2016.06.010. PMID: 27372236
Al-Salem AH, Mohaidly MA, Al-Buainain HM, Al-Jadaan S, Raboei E
Pediatr Surg Int 2016 May;32(5):487-91. Epub 2016 Feb 6 doi: 10.1007/s00383-016-3873-6. PMID: 26852298
Bakal U, Ersoz F, Eker I, Sarac M, Aydin M, Kazez A
Indian J Pediatr 2016 May;83(5):401-4. Epub 2015 Nov 12 doi: 10.1007/s12098-015-1930-0. PMID: 26558918
Lelonge Y, Varlet F, Varela P, Saitúa F, Fourcade L, Gutierrez R, Vermesch S, Prades JM, Lopez M
Surg Endosc 2016 Apr;30(4):1662-6. Epub 2015 Jul 3 doi: 10.1007/s00464-015-4352-1. PMID: 26139499
Lemoine C, Aspirot A, Morris M, Faure C
J Pediatr Gastroenterol Nutr 2015 May;60(5):642-4. doi: 10.1097/MPG.0000000000000667. PMID: 25493344

Therapy

Lelonge Y, Varlet F, Varela P, Saitúa F, Fourcade L, Gutierrez R, Vermesch S, Prades JM, Lopez M
Surg Endosc 2016 Apr;30(4):1662-6. Epub 2015 Jul 3 doi: 10.1007/s00464-015-4352-1. PMID: 26139499
Koivusalo AI, Pakarinen MP, Lindahl HG, Rintala RJ
J Pediatr Surg 2015 Feb;50(2):250-4. Epub 2014 Nov 7 doi: 10.1016/j.jpedsurg.2014.11.004. PMID: 25638612
Paraschiv M
J Med Life 2014 Oct-Dec;7(4):516-21. PMID: 25713612Free PMC Article
Dokumcu Z, Polatdemir K, Ozcan C, Erdener A
Int J Pediatr Otorhinolaryngol 2014 Apr;78(4):701-3. Epub 2014 Feb 6 doi: 10.1016/j.ijporl.2014.01.034. PMID: 24576454
Garge S, Rao KL, Bawa M
J Pediatr Surg 2013 Sep;48(9):1966-71. doi: 10.1016/j.jpedsurg.2013.06.010. PMID: 24074676

Prognosis

Tröbs RB, Finke W, Bahr M, Roll C, Nissen M, Vahdad MR, Cernaianu G
Int J Pediatr Otorhinolaryngol 2017 Mar;94:104-111. Epub 2017 Jan 21 doi: 10.1016/j.ijporl.2017.01.022. PMID: 28166998
Bakal U, Ersoz F, Eker I, Sarac M, Aydin M, Kazez A
Indian J Pediatr 2016 May;83(5):401-4. Epub 2015 Nov 12 doi: 10.1007/s12098-015-1930-0. PMID: 26558918
Yalcin S, Demir N, Serel S, Soyer T, Tanyel FC
J Pediatr Surg 2015 Nov;50(11):1823-7. Epub 2015 Jul 3 doi: 10.1016/j.jpedsurg.2015.07.002. PMID: 26210818
Jiang P, Liu J, Yu D, Jie B, Jiang S
Cardiovasc Intervent Radiol 2015 Dec;38(6):1635-9. Epub 2015 Jun 6 doi: 10.1007/s00270-015-1147-7. PMID: 26048016
Garge S, Rao KL, Bawa M
J Pediatr Surg 2013 Sep;48(9):1966-71. doi: 10.1016/j.jpedsurg.2013.06.010. PMID: 24074676

Clinical prediction guides

Wang H, Tao M, Zhang N, Li D, Zou H, Zhang J, Luo L, Ma H, Zhou Y
Am J Med Sci 2015 Nov;350(5):364-8. doi: 10.1097/MAJ.0000000000000565. PMID: 26422803
Yalcin S, Demir N, Serel S, Soyer T, Tanyel FC
J Pediatr Surg 2015 Nov;50(11):1823-7. Epub 2015 Jul 3 doi: 10.1016/j.jpedsurg.2015.07.002. PMID: 26210818
Shawyer AC, Pemberton J, Kanters D, Alnaqi AA, Flageole H
J Pediatr Surg 2015 Jul;50(7):1099-103. Epub 2014 Oct 11 doi: 10.1016/j.jpedsurg.2014.09.070. PMID: 25783329
Shah R, Varjavandi V, Krishnan U
Dis Esophagus 2015 Apr;28(3):216-23. Epub 2014 Jan 23 doi: 10.1111/dote.12177. PMID: 24456536
Garge S, Rao KL, Bawa M
J Pediatr Surg 2013 Sep;48(9):1966-71. doi: 10.1016/j.jpedsurg.2013.06.010. PMID: 24074676

Recent systematic reviews

Yang YF, Dong R, Zheng C, Jin Z, Chen G, Huang YL, Zheng S
Medicine (Baltimore) 2016 Jul;95(30):e4428. doi: 10.1097/MD.0000000000004428. PMID: 27472740Free PMC Article
Shawyer AC, D'Souza J, Pemberton J, Flageole H
Pediatr Surg Int 2014 Oct;30(10):987-96. Epub 2014 Jul 11 doi: 10.1007/s00383-014-3548-0. PMID: 25011995
Garge S, Rao KL, Bawa M
J Pediatr Surg 2013 Sep;48(9):1966-71. doi: 10.1016/j.jpedsurg.2013.06.010. PMID: 24074676
Borruto FA, Impellizzeri P, Montalto AS, Antonuccio P, Santacaterina E, Scalfari G, Arena F, Romeo C
Eur J Pediatr Surg 2012 Dec;22(6):415-9. Epub 2012 Nov 21 doi: 10.1055/s-0032-1329711. PMID: 23172569
Richter GT, Ryckman F, Brown RL, Rutter MJ
J Pediatr Surg 2008 Jan;43(1):238-45. doi: 10.1016/j.jpedsurg.2007.08.062. PMID: 18206490

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