43. Oesophagus: congenital diseases, diverticula and strictures

1. Definition

• Oesophageal atresia (OA) → congenital break in the continuity of the oesophagus, usually with a tracheo-oesophageal fistula (TOF)
• Oesophageal diverticulum → outpouching of the oesophageal wall:
  • True → all layers of the wall
  • False (pseudodiverticulum) → mucosa and submucosa only, through a gap in the muscle
• Oesophageal stricture → fixed narrowing of the lumen that causes dysphagia

2. Epidemiology

• OA → 1 in 3,000–4,500 live births; about half have other anomalies
• Zenker's (pharyngeal pouch) → most common diverticulum; elderly, age > 70 years, men
• Epiphrenic → rare; middle-aged adults
• Peptic stricture → most common benign stricture; older patients with long-standing reflux
• Caustic injury → children (accidental), adults (deliberate)

3. Aetiology and risk factors

Anatomy (revision)

• Length about 25 cm; from C6 (cricopharyngeus) to T11
• Three narrowings → cricopharyngeus (15 cm from incisors), aortic arch and left main bronchus (25 cm), diaphragm (40 cm)
• Upper third → striated muscle; middle third → mixed; lower third → smooth muscle
• No serosa → leaks spread easily; anastomoses heal less well

Congenital

• Failed separation of the foregut into trachea and oesophagus (week 4–6)
• VACTERL association → vertebral, anorectal, cardiac, tracheo-oesophageal, renal, limb anomalies
• Other → congenital stenosis, webs, duplication cysts, vascular rings (dysphagia lusoria)

Diverticula

• Pulsion → high pressure behind a poorly relaxing sphincter:
  • Zenker's → upper oesophageal sphincter (cricopharyngeus) does not relax in time
  • Epiphrenic → achalasia, diffuse oesophageal spasm in about 70%
• Traction → pulled out by inflamed, scarred mediastinal nodes (tuberculosis, histoplasmosis)

Strictures

• Peptic → gastro-oesophageal reflux disease (GORD)
• Caustic → alkali (liquefactive necrosis, deep) or acid (coagulative necrosis)
• Pill-induced → doxycycline, NSAIDs, potassium chloride, iron, alendronate
• Post-surgical (anastomotic), post-radiotherapy, post-sclerotherapy
• Eosinophilic oesophagitis → rings, young men with food bolus
• Schatzki ring, scleroderma, Crohn's disease
• Malignant → always excluded

4. Pathogenesis

OA with TOF

• Upper pouch → saliva cannot pass → drooling, aspiration
• Distal fistula → air enters the stomach; gastric acid enters the lungs → pneumonitis

Zenker's diverticulum

1. Cricopharyngeus fails to relax or is fibrosed
2. Raised pressure in the hypopharynx on swallowing
3. Mucosa herniates through Killian's dehiscence → weak triangle between thyropharyngeus and cricopharyngeus (parts of the inferior constrictor)
4. Pouch at C5–C6, usually on the left; it fills, swings down and compresses the oesophagus

Strictures

• Injury → inflammation → collagen and fibrosis → narrowing over weeks to months
• Caustic → stricture forms 3–8 weeks after injury

5. Classification

Oesophageal atresia (Gross)

• Type A → isolated OA, no fistula (about 8%); gasless abdomen
• Type B → proximal fistula (about 1%)
• Type C → proximal atresia + distal TOF (about 85%)
• Type D → both fistulas (about 1%)
• Type E → H-type fistula without atresia (about 4%); late presentation with chest infections

Diverticula by site

• Pharyngo-oesophageal (Zenker's) → false, pulsion
• Mid-oesophageal → true, traction; near the carina
• Epiphrenic → false, pulsion; distal 10 cm, usually right side

Strictures

• Simple → short (< 2 cm), straight, wide enough for an endoscope
• Complex → long, angulated, narrow; need more dilatations
• By cause → benign (peptic, caustic, anastomotic) or malignant

6. Clinical picture

Symptoms

• OA in a newborn:
  • Polyhydramnios in pregnancy
  • Frothy saliva, drooling
  • Choking, coughing and cyanosis with the first feed
• H-type fistula → coughing with feeds, recurrent pneumonia
• Zenker's:
  • Cervical dysphagia
  • Regurgitation of undigested food, hours after eating
  • Gurgling in the neck, halitosis
  • Nocturnal cough, aspiration pneumonia
  • Weight loss
• Epiphrenic → dysphagia, regurgitation, chest pain from the motility disorder
• Mid-oesophageal → usually none
• Stricture → slowly progressive dysphagia to solids, food bolus obstruction; long reflux history (peptic)

Signs

• OA → nasogastric tube (10 Fr) will not pass beyond 10 cm from the lips
• Zenker's → soft swelling in the left neck that gurgles on pressure (Boyce's sign)
• Stricture → weight loss, signs of aspiration

7. Diagnosis

Imaging

• OA → chest and abdominal X-ray with the tube in place:
  • Tube coiled in the upper pouch
  • Air in the stomach → distal fistula
  • Gasless abdomen → no distal fistula (type A or B)
• Look for VACTERL → echocardiography (right aortic arch changes the side of thoracotomy), renal ultrasound, spine X-ray
• H-type → prone tube oesophagogram, bronchoscopy
• Barium swallow → test of choice for diverticula and strictures; shows size, neck, site
• Stricture → barium shows length and shape before endoscopy

Endoscopy

• Stricture → endoscopy with biopsy in every stricture to exclude cancer
• Zenker's → avoid blind endoscopy (perforation risk); done with care to exclude cancer in the pouch
• Caustic injury → endoscopy in 12–48 h to grade the burn (Zargar grade)

Physiology

• Manometry → epiphrenic and mid-oesophageal diverticula (look for achalasia or spasm)
• pH monitoring → reflux in peptic stricture

8. Differential diagnosis

• Dysphagia → oesophageal cancer, achalasia, external compression, neurological disease
• Zenker's → neck mass, goitre, laryngocoele
• Diverticulum versus hiatus hernia, ulcer crater
• Neonate with choking → laryngeal cleft, neurological swallowing disorder

9. Treatment

Surgical: atresia

• Before surgery → upright position, Replogle tube on continuous suction in the upper pouch, no feeds, antibiotics
• Risk stratification → birth weight and cardiac disease (Waterston, Spitz)
• Operation → right extrapleural thoracotomy (or thoracoscopy): divide and close the fistula, end-to-end oesophageal anastomosis
• Long gap (type A) → delayed primary anastomosis, traction (Foker), or replacement with stomach or colon

Surgical: diverticula

• Zenker's:
  • Endoscopic stapled diverticulotomy (or laser, flexible endoscopy) → divides the wall between pouch and oesophagus, including cricopharyngeus; first choice in the elderly
  • Open (left neck) → cricopharyngeal myotomy plus diverticulectomy (> 5 cm) or diverticulopexy
  • Z-POEM → newer submucosal tunnel myotomy
• Epiphrenic (symptomatic only) → laparoscopic or thoracoscopic diverticulectomy + long myotomy on the opposite side + partial fundoplication
• Mid-oesophageal, large and symptomatic → diverticulectomy by VATS, plus myotomy if motility is abnormal

Conservative: strictures

• Endoscopic dilatation:
  • Bougies (Savary-Gilliard over a guide wire, Maloney) or through-the-scope balloon
  • "Rule of 3" → no more than three sizes up (3 mm) per session after resistance is felt
  • Perforation risk about 0.1–0.4%; higher in caustic and radiation strictures
• Peptic → high-dose PPI for life, then antireflux surgery if needed
• Refractory → intralesional steroids, temporary removable stent, incisional therapy
• Caustic injury → no vomiting or neutralising agents; nil by mouth, PPI, early endoscopy; dilatation from about 3 weeks
• Eosinophilic oesophagitis → PPI, topical steroids, diet

Surgical: strictures

• Failure of dilatation, perforation, or suspected cancer → resection (oesophagectomy)
• Severe caustic damage → oesophageal replacement (colon or stomach); caustic oesophagus carries a lifelong cancer risk

10. Complications

• OA → anastomotic leak, stricture (30–40%), recurrent fistula, tracheomalacia, GORD
• Zenker's → aspiration pneumonia, perforation at endoscopy, cancer in the pouch (rare)
• Diverticulectomy → leak, recurrent laryngeal nerve injury (neck)
• Dilatation → perforation, bleeding, restenosis
• Caustic injury → perforation, mediastinitis, stricture, squamous cell carcinoma decades later