Tracheoesophageal fistula and esophageal atresia are characterized by a separation between the proximal and distal ends of esophagus. The anomaly presents as five different types. Esophageal atresia associated with a distal tracheoesophageal fistula is by far the most common type of defect, occurring in 87% of affected infants and is associated with polyhydramnios. The development of recurrent pneumonias during the neonatal period is often the result of direct lung contamination from a congenital tracheoesophageal fistula. Acute episodes of aspiration are symptomatic, and affected individuals usually present with symptoms of pneumonia or respiratory distress, or both. The radiological manifestations are variable, depending on the spread and severity of the aspiration. The most common radiographic pattern is that of bronchopneumonia with scattered air-space opacities. Approximately 50% of infants with tracheoesophageal fistula have associated anomalies, most often involving the urinary, gastrointestinal, and cardiac systems. Tracheoesophageal fistula without oesophageal atresia is compatible with life and may go unnoticed for years or even decades. The incidence of esophageal atresia and tracheoesophageal fistula is approximately one in 4000-5000 live births, with both gender affected equally.
Althought familial cases have been reported, tracheoesophageal fistula/esophageal atresia is considered to be a multifactorial condition. Recent studies have shown the involvement of multiple genes including NMYC, SOX2, and CHD7 in the development of tracheoesophageal fistula/esophageal atresia.
Thakral and Sajwani (1998) reported the combination of right sided congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with tracheoesophageal fistula (TEF) in a male neonate. The baby, born with an apgar score of six and seven at one and five minutes, respectively, presented at birth with, respiratory distress, and frothy secretions. There was no family history of congenital malformations. He was incubated and ventilated and diagnosed as CDH and EA. A chest radiograph showed bowel loops in the right thorax with mediastinal shift to the left, a naso-gastric tube in the upper esophageal pouch, and a distended stomach in the abdomen. The patient was managed surgically via right sided laparotomy to reduce and repair the hernia. The EA and TEF were repaired via a right thoracotomy approach. The TEF was ligated flush with the trachea, the bowels were deflated through a nasogastric tube which was passed through the distal part of the divided TEF and oesophageal anastamosis was done. The right lung was one-third of normal size. Postoperatively, the baby was kept ventilated and paralyzed for 5 days. A contrast study on the 8th postoperative day revealed no anastomotic leakage. Feeding was started and the chest tube was removed on the 9th day. The baby was discharged at 2 weeks of age when he was feeding well and was gaining weight. At 2 months of age he was seen in an outpatient clinic, and was well. Thakral and Sajwani (1998) suggested their patient could be the first survivor with a right CDH and EA. They also related the patient's survival to the early management before hypoxic and aspiration related complications could occur. They therefore recommended early operation in such cases, managing both anomalies.
Banjar and Al-Nassar (2005) conducted a retrospective review of all patients with EA/TEF from the period 1993-2004 at King Faisal Specialist Hospital and Research Centre. In 41 patients with confirmed EA/TEF (26 males and 15 females), 28 (68%) had associated congenital anomalies. Pulmonary complications developed in more than 70% of the patients including persistent atelectasis, chronic aspiration pneumonia, asthma and chronic lung disease that required oxygen for more than one month. Approximately, 88% of patients who were able to do pulmonary function test showed abnormal values of moderate obstructive and restrictive lung disease. Banjar (2005) studied the same group of patients for long-term abnormalities associated with the treatment of esophageal atresia/tracheoesophageal fistula as well as the factors contributing to these disorders. Of a total of 41 patients, 40 were alive at the time of the study. TEF had been diagnosed at birth in 34 of these patients. The diagnosis was based on dilated blind esophagus in chest X-ray in 98% of the patients. About 90% of the patients had EA and distal TEF, while 5% of them had isolated EA. The most common pre/post operative complications detected in these patients were chronic aspiration pneumonia (98%), asthma/hyper-reactive airway (98%), gastro-esophageal reflux (GER; 95%), esophageal dysmotility (90%), and persistent atelectasis (90%). In light of the high frequency of GER, Banjar (2005) suggested that pH study be performed in patients to rule out GER, even if they show a normal barium swallow and bronchoscopic evaluation. In this patient population, 7% developed bronchiectasis, a complication not mentioned before in post TEF repair.
Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth at Corniche hospital, which is the only maternity hospital in Abu Dhabi, between January 1992 and January 1995. A total of 401 babies (16.6/1,000), including 289 Arabs, were seen with major malformation. Sporadic conditions accounted for 26% of the cases. In their study, Al Talabani et al. (1998) observed three cases of tracheoesophageal fistula in families from the United Arab Emirates. Recurrence was not reported in other members of the families. Al Talabani et al. (1998) concluded that their study was very close to representing the true incidence of congenital abnormalities in the whole United Arab Emirates, as they investigated over 98% of deliveries in Abu Dhabi, the capital of United Arab Emirates.
Nawaz et al. (1998a) described a neonate with a very rare and an unusual variety of esophageal atresia and tracheoesophageal fistula. The anomaly consisted of esophageal atresia and double distal tracheoesophageal fistula. The two fistula as well as part of the distal esophagus were made up of tracheobronchial tissues. In the same year, Nawaz et al. (1998b) reviewed the experience in the United Arab Emirates in the management of esophageal atresia (EA) and tracheoesophageal fistula (TEF). In their review, Nawaz et al. (1998b) studied 41 patients with EA and/or TEF; there were 23 males and 18 females. Approximately 80% of the patients had EA with distal TEF. Associated pneumonitis was seen in 78% of the patients. Approximately 51% of the patients had associated congenital malformations such as: duodenal atresia, hydrocephalus, trisomy 18, choanal atresia, anorectal agenesis, and others. The four patients with pure EA were managed via a staged approach: three had a gastrostomy and cervical esophagostomy while the fourth had only a gastrostomy. One of them died because of sepsis prior to definitive surgery; two of the remaining three had gastric replacement while the third underwent a retrosternal colonic transposition. Overall, eight patients died, thus, an overall mortality of 19.5%. Postoperative complications occurred in 19 patients who survived, a postoperative morbidity of 57.6%.