Associations between EA and other congenital anomalies and genetics

People with EA frequently have other congenital anomalies. Most often, these fall within what’s known as the “VATER or VACTERL Association.” This “association” means that children tend to have birth defects involving certain organ systems. The number of systems involved varies from person to person. The systems involved may be (these spell “VATER” or “VACTERL”:

About a quarter of EA patients have other VACTERL anomalies, and when EA is diagnosed, doctors usually check for abnormalities in other systems involved in VACTERL. Other VACTERL anomalies are commonest in people with isolated EA, and rarest with H-type TEF. Recent research has suggested that abnormalities in certain genes may play a role in why the VACTERL association occurs; these include the Forkhead Box F1 gene and the “Sonic Hedgehog Pathway.” A number of other genetic conditions are associated with EA, including Down Syndrome, DiGeorge Syndrome, and CHARGE Association.

Tom Kovesi MD, Pediatric Respirologist, Children’s Hospital of Eastern Ontario, Ottawa, Ontario Canada
06/10/2013

Bibliography:

• Ebook Frontiers Update on EA-TEF Octobre 2017
  Usha Krishnan 1,2* and Christophe Faure 3,4
  1 Department of Pediatric Gastroenterology, Sydney Children’s Hospital, Sydney, NSW, Australia,
  2 Discipline of Pediatrics, School of Women’s and Children’s Health, University of New South Wales, Sydney, NSW, Australia,
  3 Division of Pediatric Gastroenterology, Sainte-Justine Hospital, Montreal, QC, Canada,
  4 Department of Pediatrics, Université de Montréal, Montreal, QC, Canada
  
  
• Long-term respiratory complications of congenital esophageal atresia with or without tracheoesophageal fistula: an update. May 2013
  Dis Esophagus. 2013 May-Jun;26(4):413-6.
  Kovesi T 5
  5 Department of Pediatrics, Children’s Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Rd, Ottawa, ON, Canada. kovesi@cheo.on.ca

• 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.
  Shaw-Smith C.
  Eur J Med Genet. 2010 Jan-Feb;53(1):6-URL: Shaw-Smith C. Eur J Med Genet. 2010 Jan-Feb;53(1):6-13

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