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Definition
Malformation that arises from defective separation of the oesophagus and trachea
Most commonly results in a blind-ending upper oesophageal pouch with a fistulous connection between the distal oesophageal segment and the trachea
Gross classification
Type A
Pure atresia (4% to 7%)
Type B
Proximal fistula with distal atresia (1%)
Type C
Proximal atresia with distal fistula (85% to 90%)
Type D
Proximal and distal fistula (3%)
Type E
H-type fistula (2% to 3%); tracheoesophageal fistula without esophageal atresia
Risk factors
Trisomy 18 and 21
Family history
Differential diagnosis
Laryngeal cleft
These patients can present with symptoms similar to an H-type fistula with cyanotic spells, feeding difficulties, and recurrent chest infections
Best differentiated from a tracheo-oesophageal fistula by rigid bronchoscopy and oesophagoscopy
Epidemiology
One in every 3,000 births are affected, with a slight female preponderance
The majority of infants have Gross type C
85% to 90% of all cases
Diagnosis typically occurs at or shortly following birth due to the blind proximal pouch
The second most common type is a pure atresia (Gross A), which comprises 4% to 7% of all tracheo-oesophageal fistulas
Gross type D occurs 3% of the time
A much rarer form, the H-type fistula (Gross E), occurs in approximately 2% to 3% of cases
This type of fistula may be undiagnosed until later in life
Type B occurs only 1% of the time
Aetiology
The trachea and oesophagus arise from the common foregut
Initially starts as a common tube, then separates into 2 distinct tracheal tubes
The trachea has primitive lung buds at the caudal end of the primitive trachea
The separation starts during the 4th week of gestation
A failure of normal division can result in various defects including atresias and fistula formation
This failure in organogenesis may be secondary to a failure of gene expression
Suspected genes include Sonic hedgehog homologue (Shh), a key developmental gene or possibly other genes involved in development of the respiratory tract
Other genes include:
Forkhead box (FOX) gene family
Sry-related HMG box (SOX) gene family
Zinc finger protein (GLI2)
Clinical features
Maternal hx of polyhydramniosis
Inability to swallow secretions
Inability to pass nasogastric tube
Laboured respiration
Coughing
Choking
VACTERL syndrome
(Cyanosis)
Pathophysiology
When oesophageal atresia is present, the infant is unable to swallow any liquid, including his or her own secretions
The baby cannot drink until either the atresia is repaired or the stomach is accessed via the anterior abdominal wall, or if a fistula is present, a connection between the airway and the alimentary tract
In type C, this connection can cause gaseous distension to form between the stomach and small bowel on x-ray
In rare cases, there is an associated intestinal atresia, which can lead to over-expansion and rupture of the stomach
Gastric contents can also reflux back through the fistula and cause aspiration, resulting in a chemical and bacterial pneumonitis
Motility of the oesophagus is always affected, with the distal segment having the most marked disordered peristalsis
There is also a lower resting pressure of the lower oesophageal sphincter resulting in a higher incidence of GORD
Investigations
Prenatal ultrasound
Polyhydramnios and a small or no stomach bubble
X-ray chest and abdomen
Nasogastric tube coiled in upper pouch
Bronchoscopy
Presence of a fistula
Oesophagoscopy
Presence of a fistula
Barium swallow
Contrast in trachea
Management
The majority of patients require surgery to ligate the fistula and establish oesophageal continuity
The condition is not compatible with life as the patient cannot eat and is at significant risk for aspiration
Patients with pure atresia and no fistula also require surgery but can be managed either by direct gastric feeds or IV hyperalimentation with a delayed repair of the oesophagus
Type A
Surgical oesophageal repair at birth is often challenging
However, without a connection to the trachea, these patients are less susceptible to acute respiratory distress
First-line patients may be managed with a nasogastric tube in the upper oesophageal pouch, providing continuous suction
Within the first few days of life, a gastrostomy tube is placed to allow for enteral feeds and the stomach contrast study to identify the length of the lower pouch
Bronchoscopy is mandatory in cases of isolated atresia (gross A) to rule out an upper pouch fistula (10% -15% of cases)
If the length between the proximal and distal oesophageal segments is 4 vertebral bodies or longer, then the patient is allowed to grow prior to attempting a repair
Growth is monitored by using contrast radiographs
If the gap between the proximal and distal segments of the oesophagus is less than 2 vertebral bodies, primary oesophageal repair can be performed immediately or around 2 to 3 months of age
Standard therapy includes a right thoracotomy, although this procedure is now performed thoracoscopically
Thoracoscopic treatment is available in limited centres and only for experienced endoscopists
In cases of a very long gap, various techniques have been designed to stretch or increase the oesophageal length
In some cases of a failed oesophageal repair or an extremely long gap, oesophageal replacement surgery is planned.
Type B
These patients cannot eat and are at risk for repeated aspiration of oral secretions due to a proximal fistula
The patients can be managed initially by a suction catheter in the upper oesophageal pouch which should limit secretions going into the trachea
Surgery should take place in the first 24 to 48 hours of life to ligate and divide the fistula and establish oesophageal continuity
Type C
The first-line treatment is with surgical correction, aimed at dividing the tracheo-oesophageal fistula to prevent lung aspiration
Then, anastomosis of the 2 oesophageal ends is completed, in order to establish continuity of the oesophagus
Classically, this procedure has been performed via a right thoracotomy incision but is now performed in many centres using a thoracoscopic approach
Avoids the inherent morbidity of a thoracotomy
This operation should be performed within the first 24 hours of life to prevent complications of aspiration and abdominal distension
Before surgery, the patient is stabilized by placement of a nasogastric tube to decompress the upper blind pouch
Type D
This type is extremely rare and involves not only oesophageal atresia but fistulas in the proximal and distal pouches
A suction catheter should be placed prior to surgery to decompress the upper pouch and limit the secretions entering the trachea
Surgical management includes division of the fistulas and an anastomosis of the proximal and distal oesophageal pouches
Type E
These patients often present in late childhood or in early adulthood with evidence of choking, gagging or recurrent aspiration
Once diagnosed, the patient should be kept nothing by mouth until the fistula is divided
Through a right neck incision at the level of the thoracic inlet, fistula repair is performed
The fistula can also be reached thoracoscopically through the right chest
Prognosis
Patients with isolated tracheo-osophageal fistula without commonly associated congenital abnormalities (i.e., cardiac and chromosomal) have a good prognosis and survive to live healthy lives
Motility disorders and respiratory complications may occur
In one study, 58% of adults with infantile repair had GORD
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