Esophageal Atresia and Tracheoesophageal Fistula

Overview

Definitions

Tracheoesophageal fistula Fistula Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body. Anal Fistula (TEF) and esophageal atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) (EA) are congenital malformations Congenital malformations Congenital malformations or teratogenic birth defects are developmental disorders that arise before birth during the embryonic or fetal period. The rate of incidence for children born alive is approximately 3%. Teratogenic Birth Defects of the esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy and lower respiratory tract.

• EA: The esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy has upper and lower sections that do not connect.
• TEF: an abnormal connection between the esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy and the trachea Trachea The trachea is a tubular structure that forms part of the lower respiratory tract. The trachea is continuous superiorly with the larynx and inferiorly becomes the bronchial tree within the lungs. The trachea consists of a support frame of semicircular, or C-shaped, rings made out of hyaline cartilage and reinforced by collagenous connective tissue. Trachea: Anatomy

Epidemiology

• Incidence Incidence The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from prevalence, which refers to all cases in the population at a given time. Measures of Disease Frequency is 1 in 3,500 to 1 in 4,500 live births.
• 50% of cases are associated with other anomalies:
  • VACTERL syndrome:
    • Vertebral defects
    • Anal atresia Atresia Hypoplastic Left Heart Syndrome (HLHS)
    • Cardiac defects
    • TEF
    • Renal anomalies 
    • Limb abnormalities
  • CHARGE syndrome:
    • Coloboma
    • Heart defects
    • Atresia choanae
    • Growth Retardation
    • Genital abnormalities 
    • E ar AR Aortic regurgitation (AR) is a cardiac condition characterized by the backflow of blood from the aorta to the left ventricle during diastole. Aortic regurgitation is associated with an abnormal aortic valve and/or aortic root stemming from multiple causes, commonly rheumatic heart disease as well as congenital and degenerative valvular disorders. Aortic Regurgitation anomalies
  • Congenital heart defects
  • Genitourinary defects
  • Sometimes associated with trisomies 13, 18, and 21

Etiology

• Exact etiology unknown
  • Genetic component likely, as half of cases have associated malformations
  • Plausible candidates in the etiology: genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure APC2, AMER3, PCDH1, GTF3C1, POLR2B, RAB3GAP2, and ITSN1
• By the 4th week of normal embryologic development, the dorsal foregut Foregut Development of the Abdominal Organs is disconnected from the ventral trachea Trachea The trachea is a tubular structure that forms part of the lower respiratory tract. The trachea is continuous superiorly with the larynx and inferiorly becomes the bronchial tree within the lungs. The trachea consists of a support frame of semicircular, or C-shaped, rings made out of hyaline cartilage and reinforced by collagenous connective tissue. Trachea: Anatomy. 
• Defect in the lateral septation of the foregut Foregut Development of the Abdominal Organs → failure to separate into esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy and trachea Trachea The trachea is a tubular structure that forms part of the lower respiratory tract. The trachea is continuous superiorly with the larynx and inferiorly becomes the bronchial tree within the lungs. The trachea consists of a support frame of semicircular, or C-shaped, rings made out of hyaline cartilage and reinforced by collagenous connective tissue. Trachea: Anatomy
• Fistula Fistula Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body. Anal Fistula tract in TEF develops from a branch of the embryonic lung bud Lung bud Development of the Respiratory System.

Classification of EA and TEF

Clinical Presentation and Diagnosis

Clinical presentation

• Prenatal features: maternal polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios (if EA is present) in ⅔ of pregnancies
• Infant (symptoms usually manifest early, within first 24 hours):
  • EA:
    • Drooling Drooling Peritonsillar Abscess
    • Inability to feed
    • Regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD)
  • TEF:
    • Respiratory distress
    • Coughing, choking
    • Aspiration pneumonia Aspiration pneumonia A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. Pneumonia
    • Abdominal distention Abdominal distention Megacolon (from excess air in the stomach Stomach The stomach is a muscular sac in the upper left portion of the abdomen that plays a critical role in digestion. The stomach develops from the foregut and connects the esophagus with the duodenum. Structurally, the stomach is C-shaped and forms a greater and lesser curvature and is divided grossly into regions: the cardia, fundus, body, and pylorus. Stomach: Anatomy)

Prenatal diagnosis

• Obstetric ultrasound:
  • Polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios
  • Non-visualization of stomach Stomach The stomach is a muscular sac in the upper left portion of the abdomen that plays a critical role in digestion. The stomach develops from the foregut and connects the esophagus with the duodenum. Structurally, the stomach is C-shaped and forms a greater and lesser curvature and is divided grossly into regions: the cardia, fundus, body, and pylorus. Stomach: Anatomy (if EA is present)
• Genetic testing Genetic Testing Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Myotonic Dystrophies for chromosomal anomalies
• Fetal echocardiogram Echocardiogram Transposition of the Great Arteries for associated cardiac anomalies

Diagnosis in the infant

• Physical exam:
  • Inability to pass nasogastric tube Nasogastric tube Malnutrition in children in resource-limited countries (EA)
  • Abdominal distention Abdominal distention Megacolon
• Imaging:
  • Plain radiography:
    • Gas-filled gastrointestinal (GI) tract (TEF)
    • Gasless abdomen Gasless Abdomen Pediatric Gastrointestinal Abnormalities (isolated EA)
    • Nasogastric tube Nasogastric tube Malnutrition in children in resource-limited countries curled up in the chest (EA)
  • Upper GI series Upper Gi Series Imaging of the Intestines: 
    • With water-soluble contrast only; barium causes pneumonitis Pneumonitis Human Herpesvirus 6 and 7
    • Contrast in the trachea Trachea The trachea is a tubular structure that forms part of the lower respiratory tract. The trachea is continuous superiorly with the larynx and inferiorly becomes the bronchial tree within the lungs. The trachea consists of a support frame of semicircular, or C-shaped, rings made out of hyaline cartilage and reinforced by collagenous connective tissue. Trachea: Anatomy (TEF)
    • Will show dilated proximal pouch (EA)
• Endoscopy Endoscopy Procedures of applying endoscopes for disease diagnosis and treatment. Endoscopy involves passing an optical instrument through a small incision in the skin i.e., percutaneous; or through a natural orifice and along natural body pathways such as the digestive tract; and/or through an incision in the wall of a tubular structure or organ, i.e. Transluminal, to examine or perform surgery on the interior parts of the body. Gastroesophageal Reflux Disease (GERD) and/or bronchoscopy Bronchoscopy Endoscopic examination, therapy or surgery of the bronchi. Laryngomalacia and Tracheomalacia:
  • Direct visualization of TEF
  • Methylene blue injection to identify TEF
• Computed tomography (CT) scan:
  • 3D reconstruction of esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy
  • For diagnosis of associated anomalies
• Evaluation for associated anomalies:
  • Echocardiogram Echocardiogram Transposition of the Great Arteries
  • Renal ultrasonography
  • Contrast enema
  • Limb radiographs

Management and Prognosis

Management

Supportive:

• Head-up position
• Total parenteral nutrition Parenteral nutrition The administering of nutrients for assimilation and utilization by a patient who cannot maintain adequate nutrition by enteral feeding alone. Nutrients are administered by a route other than the alimentary canal (e.g., intravenously, subcutaneously). Central Venous Catheter (TPN)
• Prophylactic broad-spectrum Broad-Spectrum Fluoroquinolones antibiotics (e.g., ampicillin Ampicillin Semi-synthetic derivative of penicillin that functions as an orally active broad-spectrum antibiotic. Penicillins and gentamicin Gentamicin Aminoglycosides) for aspiration
• Suction of secretions from the atretic esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy to help with airway Airway ABCDE Assessment management

Surgery (definitive):

• Immediate:
  • Separation of trachea Trachea The trachea is a tubular structure that forms part of the lower respiratory tract. The trachea is continuous superiorly with the larynx and inferiorly becomes the bronchial tree within the lungs. The trachea consists of a support frame of semicircular, or C-shaped, rings made out of hyaline cartilage and reinforced by collagenous connective tissue. Trachea: Anatomy and esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy and TEF ligation usually done early (within the first few days)
  • Primary anastomosis of the proximal and distal segments for EA if the distance between segments is short
• Delayed (EA repair):
  • For low-birth infants (< 1,500 grams)
  • If distance between proximal and distal segments is too long
  • Sometimes may have to wait 2–9 months to let proximal esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy grow
  • If esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy does not elongate enough, may need gastric transposition, jejunal or colon Colon The large intestines constitute the last portion of the digestive system. The large intestine consists of the cecum, appendix, colon (with ascending, transverse, descending, and sigmoid segments), rectum, and anal canal. The primary function of the colon is to remove water and compact the stool prior to expulsion from the body via the rectum and anal canal. Colon, Cecum, and Appendix: Anatomy transposition to restore continuity

Prognosis Prognosis A prediction of the probable outcome of a disease based on a individual’s condition and the usual course of the disease as seen in similar situations. Non-Hodgkin Lymphomas

• 87% survival with treatment
• Early deaths are usually due to associated anomalies (cardiac and chromosomal).
• Complications after surgical repair:
  • Short-term (childhood):
    • Anastomotic leak Anastomotic leak Breakdown of the connection and subsequent leakage of effluent (fluids, secretions, air) from a surgical anastomosis of the digestive, respiratory, genitourinary, and cardiovascular systems. Most common leakages are from the breakdown of suture lines in gastrointestinal or bowel anastomosis. Bariatric Surgery
    • Esophageal stricture Stricture Primary Sclerosing Cholangitis
    • Recurrent fistula Fistula Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body. Anal Fistula
    • Tracheomalacia Tracheomalacia A congenital or acquired condition of underdeveloped or degeneration of cartilage in the trachea. This results in a floppy tracheal wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing. Laryngomalacia and Tracheomalacia
    • Delayed gastric emptying Gastric emptying The evacuation of food from the stomach into the duodenum. Gastrointestinal Motility
    • Gastroesophageal reflux disease Gastroesophageal Reflux Disease Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease (GERD) ( GERD GERD Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease (GERD))
    • Aspiration pneumonia Aspiration pneumonia A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. Pneumonia
  • Long-term (adult):
    • Dysphagia Dysphagia Dysphagia is the subjective sensation of difficulty swallowing. Symptoms can range from a complete inability to swallow, to the sensation of solids or liquids becoming “stuck.” Dysphagia is classified as either oropharyngeal or esophageal, with esophageal dysphagia having 2 sub-types: functional and mechanical. Dysphagia
    • GERD GERD Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease (GERD)
    • Respiratory issues (cough, wheezing Wheezing Wheezing is an abnormal breath sound characterized by a whistling noise that can be relatively high-pitched and shrill (more common) or coarse. Wheezing is produced by the movement of air through narrowed or compressed small (intrathoracic) airways. Wheezing, recurrent infections Recurrent infections Common Variable Immunodeficiency (CVID))
    • Barrett’s esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy: 4 times greater risk than the general population
    • Esophageal cancer Esophageal cancer Esophageal cancer is 1 of the most common causes of cancer-related deaths worldwide. Nearly all esophageal cancers are either adenocarcinoma (commonly affecting the distal esophagus) or squamous cell carcinoma (affecting the proximal two-thirds of the esophagus). Esophageal Cancer: 50 times greater risk than the general population

Differential Diagnosis

• Choanal atresia Atresia Hypoplastic Left Heart Syndrome (HLHS): a congenital anomaly in which the nasal passage is blocked due to failure of recanalization of the nasal fossae during fetal development. The newborn Newborn An infant during the first 28 days after birth. Physical Examination of the Newborn presents with cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Pulmonary Examination that subsides when stimulated and when they cry or open the mouth. This condition is associated with CHARGE syndrome CHARGE Syndrome CHARGE syndrome is a rare genetic condition with autosomal dominant inheritance in which almost all body systems are affected. The acronym CHARGE stands for the constellation of clinical features seen with this condition: Coloboma, Heart defects, Atresia choanae, Growth retardation, Genetic Abnormalities, and Ear abnormalities. CHARGE Syndrome and is diagnosed by the inability to pass a catheter into the nasopharynx Nasopharynx The top portion of the pharynx situated posterior to the nose and superior to the soft palate. The nasopharynx is the posterior extension of the nasal cavities and has a respiratory function. Pharynx: Anatomy, and by CT scan.  
• Esophageal stenosis Stenosis Hypoplastic Left Heart Syndrome (HLHS): a rare congenital malformation that usually presents with regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD), weight loss Weight loss Decrease in existing body weight. Bariatric Surgery, dysphagia Dysphagia Dysphagia is the subjective sensation of difficulty swallowing. Symptoms can range from a complete inability to swallow, to the sensation of solids or liquids becoming “stuck.” Dysphagia is classified as either oropharyngeal or esophageal, with esophageal dysphagia having 2 sub-types: functional and mechanical. Dysphagia, and refusal of solid foods. Esophagoscopy will reveal the stenosis Stenosis Hypoplastic Left Heart Syndrome (HLHS).
• Esophageal achalasia Achalasia Achalasia is a primary esophageal motility disorder that develops from the degeneration of the myenteric plexus. This condition results in impaired lower esophageal sphincter relaxation and absence of normal esophageal peristalsis. Patients typically present with dysphagia to solids and liquids along with regurgitation. Achalasia: an esophageal motility Esophageal Motility Gastrointestinal Motility disorder that presents with dysphagia Dysphagia Dysphagia is the subjective sensation of difficulty swallowing. Symptoms can range from a complete inability to swallow, to the sensation of solids or liquids becoming “stuck.” Dysphagia is classified as either oropharyngeal or esophageal, with esophageal dysphagia having 2 sub-types: functional and mechanical. Dysphagia, regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD), and occasional chest pain Pain An unpleasant sensation induced by noxious stimuli which are detected by nerve endings of nociceptive neurons. Pain: Types and Pathways. The pathogenesis involves an incomplete relaxation of the lower esophageal sphincter Lower Esophageal Sphincter Esophagus: Anatomy (LES), increased LES tone, and esophageal dysmotility Esophageal Dysmotility Scleroderma. Manometry Manometry Measurement of the pressure or tension of liquids or gases with a manometer. Achalasia and  barium swallow Barium Swallow Imaging of the Intestines are utilized for diagnosis.  
• Congenital diaphragmatic hernia Congenital Diaphragmatic Hernia Pediatric Chest Abnormalities: caused by a failure of the pleuroperitoneal membrane to fuse, resulting in persistent communication Communication The exchange or transmission of ideas, attitudes, or beliefs between individuals or groups. Decision-making Capacity and Legal Competence between the thorax and the abdomen. This communication Communication The exchange or transmission of ideas, attitudes, or beliefs between individuals or groups. Decision-making Capacity and Legal Competence leads to abdominal organ herniation Herniation Omphalocele, lung compression Compression Blunt Chest Trauma, and eventually bilateral lung hypoplasia Hypoplasia Hypoplastic Left Heart Syndrome (HLHS). The condition can also present with respiratory failure Respiratory failure Respiratory failure is a syndrome that develops when the respiratory system is unable to maintain oxygenation and/or ventilation. Respiratory failure may be acute or chronic and is classified as hypoxemic, hypercapnic, or a combination of the two. Respiratory Failure.  
• GERD GERD Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease (GERD): can present with recurrent regurgitation Regurgitation Gastroesophageal Reflux Disease (GERD), cough, stridor Stridor Laryngomalacia and Tracheomalacia, wheezing Wheezing Wheezing is an abnormal breath sound characterized by a whistling noise that can be relatively high-pitched and shrill (more common) or coarse. Wheezing is produced by the movement of air through narrowed or compressed small (intrathoracic) airways. Wheezing, and poor weight gain. The disease process involves an inappropriate relaxation of the lower esophageal sphincter Lower Esophageal Sphincter Esophagus: Anatomy and is exacerbated by mucosal damage of the lower esophagus Esophagus The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. Esophagus: Anatomy from exposure to gastric acid Gastric acid Hydrochloric acid present in gastric juice. Gastroesophageal Reflux Disease (GERD). Gastroesophageal reflux disease Gastroesophageal Reflux Disease Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease (GERD) usually presents later than EA, which is evident in the first 24 hours.