Diagnosis

Tracheoesophageal malformation

Etiology

Cause/Pathophysiology [zri][goo]

1. The esophagus is a muscular tube that transports a food bolus from the pharynx to the stomach

2. Esophagus and trachea originate from a single diverticulum and divide at fifth week of gestation

3. The anomaly arises from a developmental disruption with failure of separation of the embryogenic foregut into trachea and esophagus during the fifth to sixth week of embryonic life

4. Clinical presentation:

   • Polyhydramnios

   • Drooling

   • Dysphagia

   • Respiratory tract infections

   • Esophagitis

Complications [goo]

• Esophageal anastomotic leak after surgery

• Esophageal anastomotic stricture after surgery

• Esophageal dysmotility --> gastroesophageal reflux

• Tracheomalacia after surgery

Classification of tracheoesophageal malformations [hui][utf][tzu][ept]

1. Isolated esophageal atresia without tracheoesophageal fistula (5-13%)

2. EA with proximal TEF and blind distal esophageal pouch (0.4-5.7%)

3. EA with distal TEF and blind proximal esophageal pouch (78-92%)

4. EA with proximal and distal TEF (<0.1-2.6%)

5. Isolated TEF (2.4-6.5%)

Associated syndromes and anomalies:

• Down's syndrome, Edward's syndrome, Feingold syndrome, CHARGE (Coloboma, Heart, Choanal, Retarded growth, Genital, Ear), VACTERL (Vertebral, Anorectal, Cardiac, TracheoEsophageal fistula, Renal and Limb), Potter sequence

• Cardiovascular anomalies in 23% (most common)

  • Ventricular or atrial septal defects

  • Patent ductus arteriosus

  • Tetralogy of Fallot

  • Right-sided aortic arch

  • Persistence of left superior vena cava

• Musculoskeletal malformations

  • Radial limb abnormalities

  • Polydactyly

  • Lower limb defects

  • Hemivertebrae

  • Rib abnormalities

  • Scoliosis

• Anorectal and intestinal malformations

  • Pyloric stenosis

  • Duodenal atresia

  • Imperforate anus

  • Omphalocele

  • Malrotation

• Genitourinary malformations

  • Hypospadias

  • Renal agenesis

  • Ureteral and urethral abnormalities

  • Horseshoe kidney

  • Polycystic kidney disease

• Head and neck anomalies

  • Microcephaly

  • Micrognathia

  • Other craniofacial anomalies

• Pulmonary and mediastinal anomalies

  • Tracheobronchomalacia

  • Pulmonary hypoplasia

  • Tracheal stenosis or atresia

  • Tracheal upper pouch

• Less common defects may include

  • Single umbilical artery

  • Diaphragmatic hernia

  • Nervous system abnormalities, such as cerebral hypoplasia or spina bifida

• Environmental factors:

  • Higher paternal and maternal age

  • Low parity

  • Maternal diabetes mellitus or maternal phenylketonuria

  • Frequent maternal hot tub use

  • In utero exposure to diethylstilbestrol, methimazole, carbimazole, or mycophenolate

Epidemiology

Incidence per 100.000 [yv9][g9z][zri][u1e][goo][hui][tzu]

Approach

• Impossibility of the passage of an orogastric catheter beyond 11 or 12 centimeters [tzu]

• Prenatal ultrasound

• Chest x-ray

• Abdominal x-ray

• MRI

Treatment

Survival is only possible with surgical correction.

1. Neonatal intensive care: [tzu]

   • Ventilatory: endotracheal tube distal to the fistula

   • Nutritional support

2. Antibiotics

3. Damage control: [tzu]

   • Gastrostomy

   • Estimation of the gap between the proximal and distal esophagus

   • Lengthening of the esophagus

4. Delayed surgical intervention at three months of age: [tzu]

   • Right posterolateral extrapleural thoracotomy

   • Closure of the fistula: divided near the trachea and sewn

   • Correction of the EA:

     • Upper esophageal pouch is identified with downward tension on an oro-esophageal tube

     • Placement of a traction suture at the end of the pouch

     • Dissection to mobilize the proximal pouch to the level of the thoracic inlet

     • Esophageal continuity is accomplished with an end-to-end anastomosis

     • Optional trans-anastomotic tube

     • Long-gap EA (>3 cm) presents a challenge:

       • Colonic interposition

       • Gastric tube interposition

       • Gastric transposition

       • Free jejunal graft interposition

Differential diagnoses

Esophageal diverticula, Esophageal perforation, Esophageal rupture, Esophageal stricture, Gastroesophageal reflux disease, Pneumonia, Pneumonitis