Symptomatic GORD is extremely common in adults born with OA/TOF. Amongst adults who underwent primary repair, 75% had occasional symptoms, 17% daily, 40% weekly and 65% monthly. (31) Those with gastric transpositions have considerably higher frequency of symptoms.
Most reflux symptoms are due to gastro-oesophageal reflux – reflux of stomach contents (acid, bile, food) up into the oesophagus, and sometimes higher into the throat and mouth. Normally the lower oesophageal sphincter keeps the lower oesophagus closed and prevents gastric contents refluxing up the oesophagus. The diaphragm also helps prevent reflux by exerting pressure on the lower oesophagus. The presence of a hiatus hernia prevents the diaphragm exerting pressure on the oesophagus and this also causes reflux. In patients who have had OA repair, reflux is caused by the combination of impaired nerve supply in the lower oesophagus, leading to poor motility and poor functioning of the lower oesophageal sphincter, and the anatomical changes in the position of the oesophagus and stomach effected during repair of the OA. The pulling up of the stomach to the blind end of the oesophageal pouch to create a functional oesophagus means that the lower oesophageal sphincter has been elevated, creating a hiatus hernia, and is no longer aligned with the diaphragm, creating an additional reason for poor lower oesophageal sphincter function.
Identical symptoms can also be caused by intra-oesophageal reflux – reflux of contents within the oesophagus. This is due to oesophageal contents stagnating in the lower oesophagus because they are very slow to pass into the stomach. The main causes of this are either a stricture in the lower oesophagus or severely impaired motility with spasm. Rarer causes are a diverticulum, a dilated colon or small bowel graft if this was necessary to bridge a long-gap atresia. Intra-oesophageal reflux may cause exactly the same symptoms as gastro-oesophageal reflux, but it is very important to distinguish between the two as the treatments are completely different.
Rarely, the impaired nerve supply of the lower oesophagus can affect the stomach, leading to delayed emptying of the stomach or gastroparesis. This may cause a sensation of being very full and bloated after eating. Delayed gastric emptying worsens reflux symptoms. Although this is rarely a major problem, mild forms probably occur in up to 30% of patients. (36)
The symptoms for GORD are the same as in those born with a normal oesophagus and stomach. These include heartburn, regurgitation of food, acid brash. There are often associated respiratory, sinus and dental issues. Most severely, it can rarely cause respiratory distress, which may be a life-threatening event, and is a medical emergency.
However, it is often difficult for adults born with OA/TOF to recognise symptoms as GORD as they have been present since birth. It is common for adults born with OA/TOF to find they have severe reflux when filling in a GORD questionnaire, and not have realised these symptoms were abnormal or part of reflux.
All patients with persistent oesophageal symptoms should be investigated, firstly to rule out Barratt’s oesophagus and oesophageal cancer, and then to inform treatment. (36,39)
- Oesophagogastroduodenoscopy – to look for oesophagitis, Barratt’s oesophagus and oesophageal carcinoma. It is a poor tool to assess motility, but oesophageal dilatation and the presence of food in the oesophagus will be very suggestive of underlying dysmotility. Oesophagitis is commonly found in those born with OA/TOF on surveillance – 23% by age 10. (38) and 8–26.4% in surveillance of adults. (5,33) A recent systematic review found a prevalence of histological esophagitis of 56.5% in OA patients. (42)
- Barium swallow – to provide information about motility, as well as identify hiatus hernias, strictures and diverticula.
- CT scan – if the oesophagus or colon graft is very dilated to delineate anatomy.
- Oesophageal manometry and 24-hr pH testing and impedance testing – to provide details about the differences in peristalsis above and below the anastomosis site of the repair.
- Radionucleotide studies – occasionally needed to assess the length of time for passage of food through the oesophagus and stomach. (36)
- Lifestyle advice. Advice on healthy eating, weight loss and smoking cessation if appropriate may alleviate symptoms somewhat, though this is unlikely to be curative in this population.
- Diet modifications. Alcohol, fatty foods, acidic drinks such as fruit juices, coffee and chocolate may all aggravate GORD.
- Behaviour modification. Raising the head of the bed, or a bed wedge pillow may help, and some adults born with OA/TOF need to use a hospital-style bed to reduce risk of aspiration. Avoiding eating and drinking well before bed time, avoiding bending to the floor after a meal or drink will also reduce risk of reflux and aspiration. (43)
- Proton pump inhibitors (PPIs). As with other patient groups, these are the mainstay of treatment. It may be necessary to prescribe these twice a day. (39) Those with past history of dilatations may be advised to stay on full dose PPIs long term. (43)
- H2 receptor antagonists. When available, in resistant GORD, this can be added to the PPI regimen, usually in the regimen PPI breakfast and lunch and H2 receptor in the evening.
- Prokinetics. Metoclopramide, domperidone and macrolide antibiotics can increase the rate of oesophageal and gastric emptying and reduce the volume of oesophageal and gastric contents available to reflux and be regurgitated. (11)
- Fundoplication. If medication does not control the symptoms, particularly if reflux is causing recurrent aspiration and chest infections, anti-reflux surgery may be necessary.
- This usually involves keyhole (laparoscopic) surgery to repair the hiatus hernia (if present) and some form of fundoplication (wrapping the top of the stomach, or fundus, around the bottom of the oesophagus) to reinforce the oesophagogastric junction ‘valve’.
- The motility in the lower oesophagus is usually very poor and a full fundoplication (Nissen fundoplication) involving a 360o wrap could make swallowing worse, so most surgeons carry out a partial fundoplication whereby only the back (Toupet fundoplication) or front (Dor fundoplication) is covered by the fundus of the stomach. (36)
However, fundoplication is not a universal solution as it may aggravate dysphagia in those with the poorest oesophageal motility. In those with an existing fundoplication, this should still be assessed as an option since up to 25% of fundoplications in OA/TOF need to be redone. (42)
- Poorly functioning colon interposition graft. Some patients with long-gap OA have a segment of colon or small intestine taken up to bridge the gap. These grafts can become progressively dilated and tortuous (baggy), leading to progressive difficulties in swallowing and intra-oesophageal reflux symptoms.
- If there is significant disproportion between the colon and the oesophagus beyond it, endoscopic dilatation of the join up to 20mm may help.
- When symptoms cannot be managed by dilatation and dietary changes, surgery may be necessary, either by oesophagoplasty (opening up the join to a wider diameter) or removing the colon graft and replacing with stomach or small intestine. (36)
It is advised that adults born with OA/TOF needing reflux surgery are referred to an upper GI surgeon at a tertiary centre with a specialist interest in the condition.