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Isolated tracheo-esophageal fistula

MedGen UID:
976409
Concept ID:
CN294157
Disease or Syndrome
Synonyms: H-type tracheoesophageal fistula; isolated tracheo-esophageal fistula; isolated tracheoesophageal fistula; Isolated tracheoesophageal fistula; tracheo-esophageal fistula; tracheoesophageal fistula
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018694
Orphanet: ORPHA454750

Definition

A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated tracheo-esophageal fistula

Professional guidelines

PubMed

Schindewolf E, Moldenhauer JS
Curr Opin Obstet Gynecol 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. PMID: 32039977
Hodgson K, Togo A, Moore AM, Moody A, King SK, Zani A
J Paediatr Child Health 2018 Aug;54(8):872-874. Epub 2018 Mar 30 doi: 10.1111/jpc.13905. PMID: 29602257
Houben CH, Curry JI
Prenat Diagn 2008 Jul;28(7):667-75. doi: 10.1002/pd.1938. PMID: 18302317

Recent clinical studies

Etiology

Wild KT, Conlin L, Blair J, Manfredi M, Hamilton TE, Muir A, Zackai EH, Nace G, Partridge EA, Devine M, Reynolds T, Rintoul NE, Hedrick HL, Spinner N, Krantz ID
J Pediatr 2024 Aug;271:114060. Epub 2024 Apr 18 doi: 10.1016/j.jpeds.2024.114060. PMID: 38641166
Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Boybeyi-Turer O, Iyigun I, Cagan M, Celik HT, Ozyuncu O, Soyer T
Congenit Anom (Kyoto) 2021 Nov;61(6):208-211. Epub 2021 Jul 27 doi: 10.1111/cga.12441. PMID: 34273127
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924

Diagnosis

Wild KT, Conlin L, Blair J, Manfredi M, Hamilton TE, Muir A, Zackai EH, Nace G, Partridge EA, Devine M, Reynolds T, Rintoul NE, Hedrick HL, Spinner N, Krantz ID
J Pediatr 2024 Aug;271:114060. Epub 2024 Apr 18 doi: 10.1016/j.jpeds.2024.114060. PMID: 38641166
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Snijders D, Barbato A
Eur J Pediatr Surg 2015 Aug;25(4):333-5. Epub 2015 Aug 15 doi: 10.1055/s-0035-1559816. PMID: 26276910
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924
Crabbe DC
Paediatr Respir Rev 2003 Mar;4(1):74-8. PMID: 12615035

Therapy

Sivero L, Siciliano S, Chini A, Volpe S, Gennarelli N, Salerno G, Sivero S
Ann Ital Chir 2022;93:633-636. PMID: 35297781
Hodgson K, Togo A, Moore AM, Moody A, King SK, Zani A
J Paediatr Child Health 2018 Aug;54(8):872-874. Epub 2018 Mar 30 doi: 10.1111/jpc.13905. PMID: 29602257
McCann F, Michaud L, Aspirot A, Levesque D, Gottrand F, Faure C
Dis Esophagus 2015 Apr;28(3):211-5. Epub 2014 Jan 22 doi: 10.1111/dote.12176. PMID: 24446921
Morgan RD, O'Callaghan JM, Wagener S, Grant HW, Lakhoo K
Pediatr Surg Int 2012 Oct;28(10):967-70. Epub 2012 Aug 22 doi: 10.1007/s00383-012-3165-8. PMID: 22991204
Geneviève D, de Pontual L, Amiel J, Lyonnet S
J Pediatr Gastroenterol Nutr 2011 May;52 Suppl 1:S6-8. doi: 10.1097/MPG.0b013e318213316a. PMID: 21499049

Prognosis

Wild KT, Conlin L, Blair J, Manfredi M, Hamilton TE, Muir A, Zackai EH, Nace G, Partridge EA, Devine M, Reynolds T, Rintoul NE, Hedrick HL, Spinner N, Krantz ID
J Pediatr 2024 Aug;271:114060. Epub 2024 Apr 18 doi: 10.1016/j.jpeds.2024.114060. PMID: 38641166
Schindewolf E, Moldenhauer JS
Curr Opin Obstet Gynecol 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. PMID: 32039977
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
Smith N
Early Hum Dev 2014 Dec;90(12):947-50. Epub 2014 Nov 7 doi: 10.1016/j.earlhumdev.2014.09.012. PMID: 25448787
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924

Clinical prediction guides

Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924
Houben CH, Curry JI
Prenat Diagn 2008 Jul;28(7):667-75. doi: 10.1002/pd.1938. PMID: 18302317
Gudovsky LM, Koroleva NS, Biryukov YB, Chernousov AF, Perelman MI
Ann Thorac Surg 1993 Apr;55(4):868-75. doi: 10.1016/0003-4975(93)90108-t. PMID: 8466341

Recent systematic reviews

Stewart A, Govender R, Eaton S, Smith CH, De Coppi P, Wray J
Orphanet J Rare Dis 2024 Jul 4;19(1):253. doi: 10.1186/s13023-024-03259-x. PMID: 38965635Free PMC Article
Erenel H, Karsli MF, Ozel A, Korkmaz SO, Sen C
J Matern Fetal Neonatal Med 2020 Mar;33(6):1015-1023. Epub 2019 Jan 28 doi: 10.1080/14767058.2019.1569611. PMID: 30691333

Supplemental Content

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