Esophageal Congenital Anomalies and Dysphagia

Question 1

Dysphagia DDX:

Answer 1

• Propulsive disorders: dysphagia for liquids and solids or GERD: Achalasia, GERD, Aperistalsis, Jackhammer, Esophageal spasam.
• Structural abnormalities: dysphagia for solid food: Ring, Stenosis/Stricture, EOE, Infectious esophagitis, Pill or caustic esophagitis, extrinsic compression, tumor (rare)
  Congenital esophageal stenosis and TEF can have both propulsive and structural abnormalities.

Question 2

Congenital Esophageal Stenosis 3 types

Answer 2

• Membranous stenosis (proximal)
• Tracheobronchial remnant (distal)-higher risk of perforation with dilation
• Fibromuscular stenosis (distal)- usually safe to dilate
  Sxs: dysphagia, vomiting, food impaction.
  Diagnosis: CT scan or endoscopic US

Question 3

Esophageal Webs

Answer 3

• Group 1: Tracheobronchial rests (cartilage, respiratory mucous glands, ciliated epithelium)
• Group 2: Membranous diaphragm
• Group 3: Fibromuscular stenosis
  Schatzki ring: if catiligenous component cannot dialte it.

Question 4

Esophageal Duplication (foregut duplication)

Answer 4

• Esophageal cystic or tubular duplications
• Associations: lung sequestration, vertebral anomalies and intraspinal cysts, intra-abdominal intestinal duplications.
• Failure of the notochord to detach from the endoderm, with persistence of a neuroenteric canal

Question 5

Zenker’s Diverticulum

Answer 5

not a true diverticulum, a pressure diverticulum,
usually associated with UES dysfunction and high pharyngeal pressure and iron deficiency

Question 6

Laryngeal cleft types

Answer 6

Type 1: clefts are limited to the interarytenoid region above the vocal folds, this type does not involve the cricoid cartilage: 31%
- Type 2: this type includes the cricoid and extends into the cervical trachea: 47%
- Type 3: this type involves the thoracic trachea: 22%.

Question 7

Associated anomalies with laryngeal clefts

Answer 7

• CVS: pulmonary valvular stenosis, aberrant innominate artery, PEDA, AV stenosis, VSD
• Pulmonary agenesis, bronchoesophageal fistula, TEF
• Rudimentary uterus
  -Congenital blindness

Question 8

TEF types

Answer 8

Most common: proximal esophagus ends in blind loop, fistulus tract connects respiratory tract with esophagus.
treatment: surgery. If they are bagged at time of delivery, the stomach expands drastically

Question 9

TEF development

Answer 9

primitive foregut: tracheobronchial bud: ventral surface of the primitive gut around 4 weeks of gestation.
tracheo-esophageal ridge.
abnormalities: TEF, mutations associated with TEF: sonic hedgehog pathway.

Question 10

Etiology of Dysphagia in Esophageal Atresia

Answer 10

Primary dysmotility intrinsic neuronal abnormalities (hypoganglionosis and lack of interstitial cells of Cajal). Extrinsic abnormalities of vagal innervation.
Secondary dysmotility: Excessive surgical mobilization: myoneural damage. Esophagitis due to GERD.
Tertiary: anastomotic stricture or GERD induced stricture.

Question 11

Esophageal Atresia Associations

Answer 11

• VACERL
• CHARGE
• Pyloric Stenosis

Question 12

TEF medical treatment

Answer 12

all patients get PPI in first year of life. after first year, consider impedance studies.
patients with TEF/EA increased risk of barrett’s esophagus and esophageal cancer. Make sure to refer to adult GI.
- 1 endoscopy at year one. second endoscopy 10 years of age. Third endoscopy prior to transfer to adult GI. If finding dysplasia/barrett’s: next step is more frequent surveilance.

Question 13

causes of post fundoplication dysphagia

Answer 13

• tight wrap
• new para-esophageal hernia
• secondary achalasia (esophageal vagal denervation)

Question 14

Functional Dysphagia

Answer 14

TCA/SSRI