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Tracheoesophageal fistula with or without esophageal atresia

MedGen UID:
348770
•Concept ID:
C1861028
•
Disease or Syndrome
Synonyms: Ea-Tef; Esophageal Atresia Tracheoesophageal Fistula; Esophageal atresia with or without tracheoesophageal fistula; Esophageal Atresia-Tracheoesophageal Fistula
 
OMIM®: 189960

Professional guidelines

PubMed

Management of tracheo-oesophageal fistula in adults.
Kim HS, Khemasuwan D, Diaz-Mendoza J, Mehta AC
Eur Respir Rev 2020 Dec 31;29(158) Epub 2020 Nov 5 doi: 10.1183/16000617.0094-2020. PMID: 33153989Free PMC Article
ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Diagnostics, Preoperative, Operative, and Postoperative Management.
Dingemann C, Eaton S, Aksnes G, Bagolan P, Cross KM, De Coppi P, Fruithof J, Gamba P, Husby S, Koivusalo A, Rasmussen L, Sfeir R, Slater G, Svensson JF, Van der Zee DC, Wessel LM, Widenmann-Grolig A, Wijnen R, Ure BM
Eur J Pediatr Surg 2020 Aug;30(4):326-336. Epub 2019 Jul 2 doi: 10.1055/s-0039-1693116. PMID: 31266084
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula.
Krishnan U, Mousa H, Dall'Oglio L, Homaira N, Rosen R, Faure C, Gottrand F
J Pediatr Gastroenterol Nutr 2016 Nov;63(5):550-570. doi: 10.1097/MPG.0000000000001401. PMID: 27579697

Recent clinical studies

Etiology

Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study.
Kassa AM, Lilja HE
PLoS One 2023;18(6):e0288061. Epub 2023 Jun 29 doi: 10.1371/journal.pone.0288061. PMID: 37384789Free PMC Article

Diagnosis

Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study.
Kassa AM, Lilja HE
PLoS One 2023;18(6):e0288061. Epub 2023 Jun 29 doi: 10.1371/journal.pone.0288061. PMID: 37384789Free PMC Article
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Kotani T, Tsuda H, Ito Y, Nakamura N, Ushida T, Imai K, Iitani Y, Fuma K, Muramatsu Y, Hayakawa M, Kajiyama H
J Med Case Rep 2022 Dec 27;16(1):481. doi: 10.1186/s13256-022-03713-z. PMID: 36572904Free PMC Article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F
Am J Med Genet A 2021 Dec;185(12):3784-3792. Epub 2021 Aug 2 doi: 10.1002/ajmg.a.62447. PMID: 34338422Free PMC Article
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F, Reutter H
Birth Defects Res 2019 Jun 1;111(10):591-597. Epub 2019 Mar 18 doi: 10.1002/bdr2.1493. PMID: 30887706Free PMC Article
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, Hoppe B, Bachour H, Boemers TM, Schäfer M, Spychalski N, Neser J, Leonhardt J, Kosch F, Ure B, Gómez B, Lacher M, Deffaa OJ, Palta M, Wittekindt B, Kleine K, Schmedding A, Grasshoff-Derr S, Ven AV, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Reutter H
Birth Defects Res 2017 Jul 17;109(13):1063-1069. Epub 2017 Jun 12 doi: 10.1002/bdr2.1042. PMID: 28605140

Therapy

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.
Reutter H, Hilger AC, Hildebrandt F, Ludwig M
Pediatr Nephrol 2016 Nov;31(11):2025-33. Epub 2016 Feb 8 doi: 10.1007/s00467-016-3335-3. PMID: 26857713Free PMC Article

Prognosis

Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H
Birth Defects Res 2022 Jun;114(10):478-486. Epub 2022 Mar 31 doi: 10.1002/bdr2.2008. PMID: 35362267

Clinical prediction guides

Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H
Birth Defects Res 2022 Jun;114(10):478-486. Epub 2022 Mar 31 doi: 10.1002/bdr2.2008. PMID: 35362267
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F
Hum Mutat 2015 Dec;36(12):1150-4. Epub 2015 Sep 14 doi: 10.1002/humu.22859. PMID: 26294094Free PMC Article
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Nöthen MM, Reutter H, Ludwig M
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):750-9. Epub 2014 Aug 8 doi: 10.1002/bdra.23278. PMID: 25131394

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