Esophageal Atresia in Brief: Presentation, Workup, Diagnosis, and Treatment

Esophageal Atresia affects one in 2,500 live births. So it's a really important condition for pediatric surgeons to know about. Today we're going to review the fundamentals of Esophageal Atresia, and we're joined by two experts from Cincinnati Children's. I'm Dan von Allmen. I have the privilege of being the Surgeon in Chief at Cincinnati Children's Hospital. I'm Aaron Garrison. I'm one of the pediatric surgeons at Cincinnati Children's, and I'm the Associate Program Director of the Fellowship. Okay, so let's jump into some basics. What is Esophageal Atresia? Esophageal Atresia is a congenital anomaly in which the esophagus doesn't form completely. There are multiple different variants of Esophageal Atresia. One of the most common includes a Tracheoesophageal Fistula. People frequently use the term Tracheoesophageal Fistula when they really mean Esophageal Atresia. So it's important to be careful about the terminology that you use when you discuss this anomaly. How does Esophageal Atresia occur? So Esophageal Atresia and TEF are for gut anomalies where essentially the esophagus and the trachea just don't develop appropriately. And sometimes there are connections between the two, and sometimes the esophagus just does not communicate in one common lumen. How do patients with Esophageal Atresia typically present? Infants with isolated Esophageal Atresia sometimes are diagnosed prenatally, because the mom can have polyhydramnios during gestation. Those with Tracheoesophageal Fistula, however, usually don't present until after birth, when typically they have problems feeding. They might spit up their first feed, and then the nurse will try to pass a Repogle to allow some help with feeds, and they'll meet resistance at about typically 10 to 12 centimeters. Oftentimes, an X-ray is obtained after trying to place the NG tube, and that will demonstrate that it is coiled in the upper part of the chest in the proximal pouch of the Atretic Esophagus. It's often very helpful to prior to taking the X-ray of during the diagnostic process to inject air into the NG tube, because that will distend the proximal pouch. And if it doesn't distend, then either you have the wrong diagnosis, or it could be a clue that there's a proximal fistula. Okay, so that's how you would diagnose Esophageal Atresia, but are there any other tests we need to do? It's important to note that 40 to 60% of babies with Esophageal Atresia can have other associated anomalies. About 20% of them can have other findings within the VACTERL association, and about 5% of them can have genetic syndromes. So it's important to look for other findings within the VACTERL association in these babies. And remember that the VACTERL association includes vertebral anomalies, anorectal malformations, cardiac anomalies, Tracheoesophageal fistula, renal defects, and limb anomalies. So probably the most pressing study that is needed is an echo, to look at how the cardiac function is and make sure there are no other congenital heart anomalies. You also want to ask them to tell you what side the aortic arch is on. And then you need to do the rest of the VACTERL work up, so typically a renal ultrasound, a spine ultrasound, which doesn't need to be done immediately after birth. So, it's really important to do a good physical exam, because some of the findings include things like radial forearm anomalies and imperforate anus, and those require nothing more than a good physical exam to diagnose. The other thing that's helpful with the diagnostic X-rays is to identify vertebral body anomalies that are very common in association with esophageal atresia. And to have VACTERL, you need at least three of those associations to be considered truly VACTERL. So what are the different types of Esophageal Atresia? So there are five different types of EA or TEF. Thankfully, two of them tend to be about over 90% of those that present. So there's type C, which is the most common, which is a Esophageal Atresia with a distal fistula. So the esophagus distally will fistulize to the trachea, usually a couple centimeters above the carina. And then the next most common is the isolated Esophageal Atresia or type A, which is about 8% of the incidence, and that is no fistula to the to the trachea, but just two ends of the esophagus that don't communicate. The uncommon types of Esophageal Atresia include what is often referred to as H type, which is really more like an N type, where there's an intact esophagus, but there is a fistula between the trachea and the esophagus, and typically that fistula is high. The other types are very uncommon, which are a proximal fistula or a proximal and a distal fistula to the trachea. So what's the initial management for Esophageal Atresia? So I think initially you want to make sure your Repogle's in a good spot so that you're decompressing any saliva or secretions and try to minimize any aspiration that the baby may have. You want to do that while you're getting the remainder of the work up so that you can plan your surgical repair. For patients with the most common type of Esophageal Atresia, the management is really to stabilize them and then get them to the OR. Almost all these babies are going to need surgery within the first day or two, depending on their overall stability and other medical comorbidities that they have. As Dr. Garrison mentioned earlier, babies with Esophageal Atresia will typically need surgery in the first day or two. And in most cases, a bronchoscopy is performed prior to incision. So we feel that it's really important that every child with Esophageal Atresia undergo bronchoscopy at their initial trip to the operating room to evaluate for multiple things. First is the location of a proximal fistula and to confirm that diagnosis. Second is to evaluate for the degree of Tracheomalacia, and third is to help to position the endotracheal tube so that you can minimize the risk of insufflating the GI tract. How is the most common type of Esophageal Atresia, type C, repaired? So there are two ways to repair it, thoracoscopically and open. The gist of this operation is that we need to ligate the Tracheoesophageal Fistula, and then we need to bring the two ends of the esophagus together and create a new anastomosis. What happens after the repair? We do almost always use chest tubes. So we we really do try to get the babies extubated in a day or two. You want to minimize the risk of using something like high flow or CPAP following the extubation. So you want the child to be in good shape from a respiratory standpoint when you actually pull the tube. Surgeons typically get an esophagram after surgery to check for leak. But what exactly are they looking for? See, most of us would get an esophagram five to seven days after the operation to make sure there's no leak prior to removing the chest tube or starting feeds. So what are the typical complications after Esophageal Atresia repair? Certainly one of the most common short term complications is a leak following the repair, and that's usually diagnosed with spit coming out of the chest tube, and the management for that is to just observe. The second most common complication is a stricture. Another less common early complication is a recurrent fistula. And then reflux is another longer term complication. Other long-term complications include respiratory issues, like reactive airway disease, and Esophageal Dysmotility. These patients are really complex, but survival of these patients has really improved over the years, and it's now up to about 85 to 95% overall survival. Lower survival is typically seen in the more complex patients with other cardiac, renal, and or pulmonary anomalies. So there's a there's a big spectrum of of complexity and and morbidity after this operation. Some do great and really seem like otherwise normal healthy kids, and others who really struggle or need reoperative procedures, tend to tend to be well known to the hospital and the surgical service and need a little bit more coordinated care. These are complex patients and they frequently have morbidities that involve multiple disciplines. So having a multi-disciplinary approach that's coordinated is really important to achieving the best outcomes from these patients for the long term. Okay, so to summarize, Esophageal Atresia is an important condition for pediatric surgeons to know about. There are five types of Esophageal Atresia. The most common is type C, in which there is Esophageal Atresia and a distal Tracheoesophageal fistula. Babies are commonly diagnosed after birth when they have trouble feeding and a Repogle is not able to be passed all the way into the stomach. Once a diagnosis is identified, the next step is to look for other anomalies in the VACTERL association. Babies will typically require surgery in the first one to two days. Remember that the surgery can be done thoracoscopically or open, and we need to ligate the fistula and bring the two ends of the esophagus together. Post-operatively, the most common complications include leak, stricture, and reflux. Overall though, babies typically do well and survival has improved a lot over the years, but they're still complex patients that require multi-disciplinary care. Okay, so that's all I have for Esophageal Atresia with Dr. Dan von Allmen and Dr. Aaron Garrison. If you liked what you heard, don't forget to download the Sacrum Pediatric Surgery app, subscribe to our YouTube channel, and follow us on social media. Until then, I'm Ellen and Cisco with Cincinnati Children's. I'm Rod. I'm Todd Ponksy. And remember, knowledge is to be free.