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Tracheo-oesophageal fistula

Highlights
Summary Overview

Basics
Definition Epidemiology Aetiology Pathophysiology Classification

Diagnosis
History & examination Tests Differential Step-by-step Criteria Guidelines Case history

Treatment
Details Step-by-step Guidelines

Follow Up

Recommendations Complications Prognosis

Resources
References Patient leaflets Credits Email Print Feedback Share Add to Portfolio Bookmark Add notes

History & exam


Key factors

presence of risk factors maternal hx of polyhydramniosis inability to swallow secretions inability to pass nasogastric tube

Other diagnostic factors


laboured respiration coughing

choking cyanosis VACTERL syndrome History & exam details

Diagnostic tests
1st tests to order

prenatal ultrasound x-ray chest and abdomen

Tests to consider

bronchoscopy oesophagoscopy barium swallow Diagnostic tests details

Treatment details
Acute

type A stabilization and gastrostomy oesophageal replacement type B and D suction catheter and surgical correction

type C stabilization and surgical correction type E nothing by mouth and surgical division of fistula Treatment details

Summary

Occurs in 1 of every 3000 live births. There are no known pre-disposing factors; however, the condition is associated with VATER syndrome. Surgical intervention is required as a newborn. Patients may have long-term complications, such as eating difficulties, GORD, and tracheomalacia.

Definition
Tracheo-oesophageal fistula is a malformation that arises from defective separation of the oesophagus and trachea. This most commonly results in a blind-ending upper oesophageal pouch with a fistulous connection between the distal oesophageal segment and the trachea.

Epidemiology
One in every 3,000 births are affected, with a slight female preponderance. The majority of infants have Gross type C, comprising 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. [2] [3] [4]

Aetiology
The trachea and oesophagus arise from the common foregut, initially starting as a common tube, then separating 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. [5] Other genes include forkhead box (FOX) gene family, Sry-related HMG box (SOX) gene family, and zinc finger protein (GLI2).

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. [6] 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.

Classification
Gross classification: the surgery of infancy and childhood, 1954 Type A

[1]

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%) Tracheo-oesophageal fistula without oesophageal atresia

Monitoring
The patients should be monitored for GORD, stricture and possible recurrent fistula. A post-operative upper GI is usually obtained at 3 to 6 months to evaluate the anastomosis, as well as the extent of reflux. Further studies are obtained depending on the patients' progress and overall condition. Antireflux medications are usually continued until there is no clinical or radiographic evidence of GORD. Tracheomalacia may be a long-term issue. Cyanotic spells or episodes of less severe respiratory decompensation may warrant more aggressive treatment. If the baby is having trouble with feeds or secretions, or seems to have increased breathing effort, a barium swallow study should be obtained.

Patient Instructions
Parents should observe the baby for evidence of GORD such as frequent vomiting, persistent cough, gas, or colic (frequent crying or increased agitation). Also, parents should look for aspiration or feeding intolerance. Parents should be instructed on resuscitation techniques before the infant is discharged from the hospital. If the baby is having trouble with feeds or secretions, or seems to have increased breathing effort, medical care should be sought. Because of the oesophageal dysmotility, children may have poor feeding.

Complications
Complicationhide all

failure to thrive see our comprehensive coverage of Failure to thrive May result from feeding difficulties secondary to poor oe oesophageal stricture or severe gastro-oesophageal refl

GORD see our comprehensive coverage of Disorders of infant f This occurs due to poor oesophageal motility and a cong The initial method of therapy is medical treatment, but 50 anti-reflux procedure. [15] [16] [17] [7] [18]

chest wall malformation and scoliosis Arises secondary to a former thoracotomy as a newborn by using a thoracoscopic approach to the surgical repair oesophageal stricture

Typically, patients present with chocking, gagging and fe due to GORD and tension at the anatomosis site. Initial t blockers, and approximately 10% to 20% of patients will oesophageal dilations. [20] [18]

tracheomalacia Often the cartilaginous wall of an infant with tracheo-oes wall may collapse during inspiration causing near comple may result in symptoms which range from noisy breathin exertion to near death or cyanotic spells. If these sympto be referred for bronchoscopy. If the patient has significan worsen symptoms. Symptoms usually resolve as the trac cartilages become stiffer; however, severe cases may re aortopexy or even tracheostomy.

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. [14]

Differential diagnosis
Condition Laryngeal cleft Differentiating signs/symptoms Differentiating tests

These patients can present with symptoms similar to

This is best differentiated from a tracheo-oesophageal fistula by rigid br oesophagoscopy.

an H-type fistula with cyanotic spells, feeding difficulties, and recurrent chest infections.

Case history
A newborn presents at birth with mild respiratory distress and increased oral secretions. An attempt to pass a suction catheter meets with resistance. An attempt to pass a replogle tube also meets with resistance.

Other presentations
Many patients are now diagnosed prenatally. Fetal ultrasound shows polyhydramnios and often no stomach bubble. If the baby presents with a pure atresia (no fistula), the initial findings at delivery are similar. The nasogastric tube coils in the upper oesophageal pouch; however, there is no air in the bowel as there is no connection to the airway. Associated anomalies may be present, such as cardiac, renal, limb, and spinal abnormalities.

History & examination


Key diagnostic factorshide all
presence of risk factors (common) Key risk factors include trisomy 18 and 21 and a family history, which may include Feingold's syndrome (autosomal dominant).

maternal hx of polyhydramniosis (common) Polyhydramnios can be an indicator of some sort of intestinal obstruction. An inability of the fetus to swallow amniotic fluid results in polyhydramnios. In this scenario, the perinatologist assesses for evidence of a stomach bubble on prenatal ultrasound. An inability to detect the stomach is highly suggestive of an oesophageal atresia. inability to swallow secretions (common) If an infant cannot tolerate his or her own secretions or feed, this suggests a significant obstruction of the oesophagus. In these cases, an attempt should be made to pass a catheter into the stomach. An inability to do so is highly suggestive of oesophageal atresia. inability to pass nasogastric tube (common) A nasogastric tube coiled in upper oesophageal pouch may occur. If the diagnosis is unclear, 1 mL of barium may be passed gently under fluorescent control to confirm proximal atresia. Other diagnostic factorshide all laboured respiration (common) Mild or moderate respiratory distress is a nonspecific finding occurring with many conditions in the newborn. Tracheo-oesophageal fistula is one of the more rare causes. Respiratory distress

should lead to a chest x-ray to aid a proper diagnosis. coughing (common) Suggests difficulty swallowing or tolerating secretions. Like laboured breathing, this finding is non-specific. choking (common) Choking suggests difficulty swallowing or tolerating secretions, but is an extremely nonspecific finding. VACTERL syndrome (common) Can form part of the more extensive VACTERL syndrome: vertebral defects, imperforate anus, cardiac defects, tracheo-oesophageal fistula, radial and renal dysplasia, limb anomalies. cyanosis (uncommon) This finding is relatively rare, but increasing respiratory distress can present with time as the stomach becomes more distended with air and/or if gastric contents reflux back through the fistula. Risk factorshide all Weak trisomy 18 and 21 Present in up to 6% of patients who have associated malformations in other organ systems.

Familial or syndromic cases of oesophageal atresia account for less then 1% of the total. [7] family history Feingold's syndrome is an associated disease with a rare autosomal dominant inheritance pattern. [2] [8]

Diagnostic tests
1st tests to orderhide all
Test

prenatal ultrasound A part of routine prenatal screening or in cases of suspe familial syndrome. If evidence of polyhydramnios, ultraso

x-ray chest and abdomen Evidence of respiratory distress or poor handling of secre nasogastric tube warrants an x-ray. An x-ray of the ches obtained immediately after birth in patients who are susp fistula on prenatal ultrasound

Tests to considerhide all


Test

bronchoscopy

Suspicion of an H-type fistula due to recurrent aspiration also be performed prior to repair of classic type C fistula,

Also helpful to identify tracheo-oesophageal fistula, as w debate as to whether this procedure is really necessary, stress prior to surgical repair.

oesophagoscopy Performed with suspicion of H-type tracheo-oesophagea

barium swallow Performed if a suspicion of H-type fistula. Patients prese often difficult to visualise the fistula.

Step-by-step diagnostic approach


The diagnosis is based on clinical suspicion. In general, newborns present with feeding difficulties or respiratory distress. Inability to pass a nasogastric tube is often the first clue of an oesophageal atresia. As prenatal ultrasound has become more common and sensitive, increased numbers of these lesions are being detected in utero.

Clinical evaluation
Infants who are born without a prenatal diagnosis may be born completely asymptomatic or with varying degrees of respiratory distress, such as laboured breathing, coughing, choking, and cyanosis. The first clue that an oesophageal atresia exists may be an inability to tolerate feedings. The infant is excessively mucusy and requires frequent suctioning. Patients with the

more rare form of H-type fistula may go undetected until later in life when they present with recurrent episodes of aspiration pneumonia, feeding difficulties or chronic cough. Additionally, a maternal history of polyhydramniosis may indicate the fetus' inability to swallow amniotic fluid, suggesting a blockage. The most insidious type is E, which can be very difficult to diagnose. These patients often present with repeated episodes of aspiration with no clear aetiology. This condition is difficult to diagnose and may be missed on repeated exams. [4] [9] [10] It may form part of the more extensive VACTERL syndrome: vertebral defects, imperforate anus, cardiac defects, tracheo-oesophageal fistula, radial and renal dysplasia, limb anomalies.

Prenatal ultrasound
A small or absent stomach bubble and polyhydramnios has a sensitivity of 56% in predicting oesophageal atresia. All infants born to a mother with polyhydramnios should have a nasogastric tube passed at birth.

Investigations at birth
An x-ray of the chest and abdomen should always be obtained immediately after birth in patients who are suspected to have a tracheo-oesophageal fistula on prenatal ultrasound. An x-ray is also warranted if there is evidence of respiratory distress or poor handling of secretions, or an inability to pass nasogastric tube. The x-ray should be completed with a nasogastric tube in place. The nasogastric tube should be stiff and wide bore. The x-ray will show the nasogastric tube coiled in the upper oesophageal pouch with or without gas in the stomach and bowel. A barium swallow is only necessary if an H-type fistula is suspected or in a case of oesophageal atresia, where a fistula may occur between the upper pouch and trachea. This is extremely rare and as a result, this study is often unnecessary.

Some surgeons perform a bronchoscopy at the time of surgical repair to look for an upper pouch fistula. As this is extremely rare, this test is generally unwarranted. Bronchoscopy and oesophagoscopy are performed in cases of suspected Htype fistulas, as these lesions are hard to diagnose and may be missed on an upper GI series.

Diagnostic criteria
Prenatal ultrasound
Polyhydramnios and a small or no stomach bubble may be seen as a part of routine prenatal screening, or in cases of suspected chromosomal anomaly or familial syndrome.

Treatment Options

Patient group type A

Treatment Treatmenthide all line 1st stabilization and gastrostomy Surgical repair of the oesophagus of type A pure atresia at birth is often challenging. However, as there is no connection to the trachea, these patients are less susceptible to acute respiratory distress. First, type A can be managed with a nasogastric tube in the upper oesophageal pouch. 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. If the length between the proximal and distal

Patient group type A

Treatment Treatmenthide all line 1st stabilization and gastrostomy Surgical repair of the oesophagus of type A pure atresia at birth is often challenging. However, as there is no connection to the trachea, these patients are less susceptible to acute respiratory distress. First, type A can be managed with a nasogastric tube in the upper oesophageal pouch. 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. If the length between the proximal and distal

Patient group type A

Treatment Treatmenthide all line 1st stabilization and gastrostomy Surgical repair of the oesophagus of type A pure atresia at birth is often challenging. However, as there is no connection to the trachea, these patients are less susceptible to acute respiratory distress. First, type A can be managed with a nasogastric tube in the upper oesophageal pouch. 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. If the length between the proximal and distal

Patient group type A

Treatment Treatmenthide all line 1st stabilization and gastrostomy Surgical repair of the oesophagus of type A pure atresia at birth is often challenging. However, as there is no connection to the trachea, these patients are less susceptible to acute respiratory distress. First, type A can be managed with a nasogastric tube in the upper oesophageal pouch. 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. If the length between the proximal and distal

Patient group type A

Treatment Treatmenthide all line 1st stabilization and gastrostomy Surgical repair of the oesophagus of type A pure atresia at birth is often challenging. However, as there is no connection to the trachea, these patients are less susceptible to acute respiratory distress. First, type A can be managed with a nasogastric tube in the upper oesophageal pouch. 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. If the length between the proximal and distal

Treatment approach
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.

Gross classification: the surgery of infancy and childhood, 1954 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. [1]

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, which 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.

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