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”:

VVertebralJoined or abnormal bones in the spine, scoliosis
AAnalImperforate anus
CCardiacCongenital heart defects
TETracheoesophagealEA and TEF; also congenital lung anomalies such as a small (or hypoplastic) right lung
RRenalCongenital kidney anomalies
LLimbSmall or missing thumb, small or missing radius (arm bone proximal to the thumb)

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