Dr. Sam Chippington Martin Churchill-Coleman OESOPHAGEAL ATRESIA Dr. Sam Chippington Martin Churchill-Coleman

Atresia - is the absence of a usual opening in a tubular structure Embryology – the exact cause of oesophageal atresia is not known but both the oesophagus and trachea originate from the primitive foregut and this is thought to be a separation defect. Occurrence – Approximately 1:4000 live births

PRENATAL DIAGNOSIS Ultrasound diagnosis is indicative rather than absolute Obstetric Ultrasound may show unexplained polyhydramnios Absent stomach or small stomach Early diagnosis allows time and place of delivery to be planned so that early paediatric surgical correction and neonatal care is available. This also gives time for preparation and education of the parents.

Normal foetal stomach Gastric bubble Spine Umbilical cord Cross sectional view of fetal abdomen with vertebral column to left of the image, the gastric bubble above and the umbilical cord to the right.

Absence of foetal stomach bubble Absence of gastric bubble Umbilical cord Spine

Small foetal stomach bubble Umbilical vein small gastric bubble “collapsed” Spine

FOETAL MRI Some centres carry out 3rd trimester MRI – using single shot rapid acquisition T2 weighted images – the diagnosis is considered positive if the upper oesophagus is dilated and the lower oesophagus is not demonstrated

CLINICAL DIAGNOSIS After birth these babies often appear to blow bubbles when attempting to swallow mucous and saliva If these signs go unnoticed the first feed is almost always accompanied by coughing, choking and cyanosis. In these cases a replogle tube is passed – typically this will reach 10-12cm before reaching the blind end of the upper pouch.

TYPES OF OESOPAGEAL ATRESIA, TRACHEAL FISTULA OR COMBINATION OF THE TWO 5 TYPES OF MALFORMATION 87% have oesophageal atresia with distal tracheo-oesophageal fistula 8% Isolated atresia with no fistula 4% Isolated tracheo-oesophageal a ‘H’ Type fistula with no atresia 1% Atresia with upper pouch fistula 1% Atresia with upper and lower pouch fistula

NEONATAL ABDOMEN CHEST RADIOGRAPHS CXR – will normally demonstrate a dilated upper pouch containing a replogle tube ABDOMEN – a normal bowel gas pattern will be visible where there is connection via fistula to the lower oesophagus Therefore there are only two types of malformation where the abdomen will be gasless – the isolated atresia without fistula and the fistula to the upper pouch of the oesophagus

Demonstrating an H type Fistula SPINE HEAD FEET

DELAYED DIAGNOSIS Diagnosis of four of the types is easily made after attempting to feed a new baby However the ‘H’ Type Fistula because there is no atresia may not be identified for many years Often ‘H’ Type fistula present with recurrent chest infections or more dramatically when diving into a swimming pool ‘H’ Type fistulae are demonstrated by oesophagogram – taking a series of images with the patient prone and injecting water soluble contrast through a naso-gastric tube which is withdrawn from the stomach to the mouth so that the whole length of the oesophagus is interrogated.

HISTORY OF TREATMENT Oesophageal atresia is not compatible with life unless it is surgically repaired Before 1939 when the first successful repair took place this diagnosis was fatal Since that time surgical techniques and anaesthetics have improved and the great majority of these patients survive to lead a normal life Most patients nowadays undergo a primary anastomosis in the first few days of life. Large gaps between the upper and lower pouches are problematic and used to be bridged by colon transplants and J tubes fashioned from the lesser curvature of the stomach.

ASSOCIATED DEFECTS Associated congenital abnormalities are discovered in approximately one half of patients with oesophageal atresia The acronym VACTERL has been used to describe the condition of multiple anomalies in these infants

LIMB defects – radial agenesis most common VERTEBRAL – Hemivertebrae and scoliosis ANORECTAL MALFORMATION CARDIAC DEFECTS – VSD, Patent Ductus Arteriosus and Tretralogy of Fallot TRACHEO ESOPHAGEAL (American esophageal) RENAL TRACT – Ectopic kidneys, horseshoe, duplex systems, renal agenesis, urethral malformations and hypospadias LIMB defects – radial agenesis most common

In addition to the vacterl anomolies there is increased incidence of Duodenal atresia, malrotation, intestinal malformations, Meckel’s diverticulum and annular pancreas.

Oesophageal Atresia and Tracheo-Oesophageal Fistula

Air filled upper oesophagus Hemivertebra Replogle tube

Surgical Repair Oesophageal Atresia First described 1703 22 1936 Thomas Lanman (American Surgeon Boston) . Patient Survived 3 hours. 1939 WilliaM Ladd - Boston(best known for the designing the operation still used for malrotation)dividing the tracheoesophageal fistula, marsupializing the upper esophagus to the neck, and creating a feeding gastrostomy 1941 -Dr. Cameron Haight of Ann Arbor, Michigan, was the first to perform anastomosis with repair in 1941. Patient spent 18 months in hospital, but was still alive in 2005 22

Surgical Repair Oesophageal Atresia 1936 – First surgical repair First described 1703 1936 – First surgical repair 1939 – First successful surgical repair Gastrostomy inserted, delayed surgical repair 1936 Thomas Lanman (American Surgeon Boston) . Patient Survived 3 hours. 1939 WilliaM Ladd - Boston(best known for the designing the operation still used for malrotation)dividing the tracheoesophageal fistula, marsupializing the upper esophagus to the neck, and creating a feeding gastrostomy 1941 -Dr. Cameron Haight of Ann Arbor, Michigan, was the first to perform anastomosis with repair in 1941. Patient spent 18 months in hospital, but was still alive in 2005 23

Surgical Repair Oesophageal Atresia 1936 – First surgical repair First described 1703 1936 – First surgical repair 1939 – First successful surgical repair Gastrostomy inserted, delayed surgical repair 1941 – First primary oesophageal anastomosis and ligation of tracheo-oesophageal fistula 1936 Thomas Lanman (American Surgeon Boston) . Patient Survived 3 hours. 1939 WilliaM Ladd - Boston(best known for the designing the operation still used for malrotation)dividing the tracheoesophageal fistula, marsupializing the upper esophagus to the neck, and creating a feeding gastrostomy 1941 -Dr. Cameron Haight of Ann Arbor, Michigan, was the first to perform anastomosis with repair in 1941. Patient spent 18 months in hospital, but was still alive in 2005 24

Further Developments 1945-1965 By 1965 1965- 1990 Focus on successful repair in otherwise healthy neonates (and birth weight > 2.5kg) By 1965 Success rate 80-90% 1965- 1990 Refinement of the procedure Low birth weight Co-existing morbidity Mortality highest in low birth weight <1.5kg and associated major congenital heart disease Improvements in survival largely attributable to improvements in Neonatal intensive care Anaesthetic management Ventilatory support Surgical techniques

Surgical Anastomosis

Laparoscopic Repair Newest approach Fewer musculoskeletal sequelae Winging of the scapula Asymmetrical chest wall Thoracic scoliosis Breast maldevelopment Asymmetrical chest wall – atrophy of serratus anterior 28

Surgical Options Primary oesophageal anastomosis Within 48 hours of birth Delayed primary oesophageal anastomosis Unfit for surgery Other associated anomalies e.g.cardiac

Surgical Options Staged repair Long gap oesophageal atresia ‘Stretch’ upper pouch Mechanical Electromagnetic Wait for growth Colonic Interposition Defined as > 2 vertebral bodies or gap of > 3cm Colonic interposition – usually ascending colon including the ileo-caecal valve Ongoing risk of aspiration until repair performed 31

Colonic Interposition

Complications of Surgery Acute -Anastomotic leak Pathogenesis Use silk sutures at the anastomosis Excessive anastomotic tension Excessive distal oesophageal mobilisation Colonic interposition – graft necrosis Sutures usually Vicryl Not surprisingly more common in long gap – 54% compared with 11% in primary Leak documented in up to 75% 34

Image anastomotic leak

Complications of Surgery Late Missed TOF Present with recurrent chest infection Recurrent TOF Erosion through site of previous repair Anastomotic suture line leak 2-18 months post repair. Seen in approx 10% Ligation rather than complete division increases the likelihood of recurrent TOF Instrumentation eg NG tubes can produce recurrent TOF

TOF image

Complications of Surgery Late Anastomotic Stricture -40% of repairs Pathogenesis Anastomotic leak Two layer anastomosis Anastomosis under tension Silk sutures Gap length at presentation Associated gastro-oesophageal reflux Narrowing requiring at least 2 dilatations Occurs in 75% of patients following anastomotic leak 38

Anastomotic stricture

Surgical Dilatation

Radiological Dilatation

Stenting

Long Term Complications Oesophageal function Disordered oesophageal motility Barium swallow Oesophageal function tests Manometry pH studies Surgery restores gastro-oesophageal continuity but does not ensure normal oesophageal function

Abnormal oesophageal motor function Oesophageal Function Abnormal oesophageal motor function No progressive peristalsis Lack of co-ordinated peristaltic stripping wave Oesophageal contractions simultaneous Can involve whole oesophagus or distal two thirds Reflux due to incompetence of the gastro-oesophageal sphincter +/- ? Due to mobilisation of the distal oesophagus causing an iatrogenic hiatus hernia Seen in up to 60% patients Reflux + disordered motility = impaired acid clearing ability Long term success rate of anti-reflux surgery is not good, if recurrent or life threatening respiratory symptoms or impaired nutrition then little choice other than operative intervention Oesophageal symptoms persist into adult life and sometimes severity can only be elicited by direct questioning

Moderate- severe gastro-oesophageal reflux Oesophageal Function Moderate- severe gastro-oesophageal reflux Incompetent gastro-oesophageal sphincter ? Iatrogenic hiatus hernia Oesophagitis Symptoms persist into adult life Reflux due to incompetence of the gastro-oesophageal sphincter +/- ? Due to mobilisation of the distal oesophagus causing an iatrogenic hiatus hernia Seen in up to 60% patients Reflux + disordered motility = impaired acid clearing ability Long term success rate of anti-reflux surgery is not good, if recurrent or life threatening respiratory symptoms or impaired nutrition then little choice other than operative intervention – required in up to 25% of patients 6-21/12 of age Oesophageal symptoms persist into adult life and sometimes severity can only be elicited by direct questioning

Abnormal oesophageal motor function Oesophageal Function Abnormal oesophageal motor function No progressive peristalsis Moderate- severe gastro-oesophageal reflux Reflux and disordered motility Oesophagitis Pulmonary symptoms Reflux due to incompetence of the gastro-oesophageal sphincter +/- ? Due to mobilisation of the distal oesophagus causing an iatrogenic hiatus hernia Seen in up to 60% patients Reflux + disordered motility = impaired acid clearing ability Long term success rate of anti-reflux surgery is not good, if recurrent or life threatening respiratory symptoms or impaired nutrition then little choice other than operative intervention Oesophageal symptoms persist into adult life and sometimes severity can only be elicited by direct questioning

Long Term Complications Respiratory Recurrent bronchitis Persistent cough - ‘TOF’ cough Pneumonia Commonest first 8 years of life Tracheomalacia (reported in up to 10%) TOF cough 16-40% of adults Tracheomalacia reported in 75% post mortem but clinically significant in about 10% tracheomalacia is usually found at or just above level of the original EA/TEF, the site of collapse is most prominent in the distal one-third trachea in 60% of cases, and in the middle one third in 30%.1 The soft trachea is easily compressed between the aorta (or innominate artery) and the frequently dilated former esophageal pouch Treatment for tracheomalacia is generally reserved for patients with dying spells or recurrent pneumonia. In one series,51 the indications for surgery were episodes of apnea and cyanosis in 65%, recurrent pneumonia in 25%, and worsening stridor in 46%. Aortopexy involves suturing the aorta to the posterior surface of the sternum. As the posterior aspect of the aorta adheres to the anterior aspect of the trachea, this draws the front wall of the trachea anteriorly, maintaining the tracheal lumen. This has been reported to have initial success rates of 35 to 88%

Recurrent inhalation of food Respiratory Symptoms Recurrent inhalation of food Consequence of dysmotility and reflux Fat seen in tracheal secretion aspirates Association between oesophageal stricture and recurrent bronchitis Defective motility causes delayed emptying, regurgitation and pooling of food in the oro-pharynx In children dying in early post-op period, non-ciliated epithelium in major airways ?congenital ?due to reflux

Survival for patients with OA and TOF good In Summary Survival for patients with OA and TOF good Symptoms relating to dysmotility and reflux have a significant impact Frequently persist into adulthood