Prognostic Predictors of Esophageal Atresia Cases Two-Years Experience at Queen Rania Hospital for Children, King Hussein Medical Center. Majed Sarayrah, MD, FACS. Ahmad Abuqura, MD. Ola Haddad, RN. Ebtisam Sarayrah, RN Yanal Abaza, MD. Baha’ Abdullah, MD. Queen Rania Al-Abdulla Hospital for Children. King Hussein Medical Center, Amman-Jordan.

Objective: To evaluate our experience in managing esophageal atresia cases highlighting the main factors influencing the outcome. Methods: Retrospectively, we reviewed the medical records of 52 cases of esophageal atresia over a period of two years, (2013 and 2014) at Queen Rania Al-Abdullah Hospital. Follow up period was all through 2015.

Results: Patients’ age of presentation ranged from one to eight days with a mean age of 3.5 days. Most cases were type C variant. 20 cases (38%) were premature with a mean GA 33weeks and LBW with a mean birth weight of 1.5kg. 38 cases (73%) had associated congenital anomalies; the most common of them was heart defects, two cases had single ventricle. VACTERL association was noticed in 5 cases (11%). All cases had the same work up pre-operatively; cardiac echo and renal ultrasound in addition to routine labs. Total mortality cases were 9 (17%), 7 of them were premature with major cardiac defects while the other 2 died due to leak and sepsis.

Postoperative gross leak was noted in 4 cases, 2 of them were reopened and the esophagus was excluded. Symptomatic anastomotic stricture was noted in 14 cases of the survivors (73%) treated by dilatation program. 2 cases had anti-reflux surgery due to refractory GERD after the age of 1 year. The follow up period ranged from 10-21months.

Conclusion: Prematurity and major cardiac defects were the main bad prognostic predictors of outcome in treating esophageal atresia.

Definition: Congenital anatomical discontinuity of the esophageus with or without communication to the trachea. The exact cause of esophageal atresia is not known but both the oesophagus and trachea originate from the primitive foregut and this is thought to be a separation defect.

Epidemiology: Finland 1 in 2440; US & Australia 1 in 4500 live birth. 62% male. Black people have lower prevalence than white population. Increased risk with first pregnancy, mother <20 yr. Multiple birth: (TEF-3.7%; EA-TEF 4.9% EA 8.8% ). Chromosomal anomalies 6%-10% (trisomy 18 & 21) Empirical risk: 0.5%-2% recurrent risk in of one affected child; 20% if more than one sibling affected, 3%-4% in an affected child born to affected parents.

Ultrasound diagnosis is indicative rather than absolute Antenatally: 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

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 N/G tube is passed – typically this will reach 10-12cm before reaching the blind end of the upper pouch.

CXR – will normally demonstrate a dilated upper pouch containing a coiled N/G tube. ABDOMEN – a normal bowel gas pattern will be visible where there is connection via fistula to the lower oesophagus

The chest radiograph A plain radiograph will confirm the tube has not reached the stomach

Therefore there are only two types of malformation where the abdomen will be gasless – the isolated atresia without fistula. the fistula to the upper pouch of the oesophagus.

The Gasless Abdomen Absence of gas in the abdomen suggests that the patient has either atresia without a fistula or atresia with a proximal fistula only

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 ‘N’ Type fistula present with recurrent chest infections or more dramatically when diving into a swimming pool. ‘N’ Type fistulae are demonstrated by esophagogram – taking a series of images with the patient prone and injecting water soluble contrast through N/G tube which is withdrawn from the stomach to the mouth so that the whole length of the oesophagus is interrogated.

Preoperative Investigations A plain radiograph Renal ultrasonography and echocardiography are routine preoperative investigations Endoscopy or a careful contrast study performed in a tertiary center. In some centers, bronchoscopy is performed routinely in all infants with esophageal atresia.

HISTORY OF TREATMENT Esophageal 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.

Surgery •1869 Timothy Holmes first suggested surgical anastomosis. •First operative attempt:1888 Charles Steelle performed a gastrostomy, push a steel probe through the gastrostomy, simultaneously push down a bugie.

Surgical Repair Oesophageal Atresia First described 1703 1936 – First surgical repair 1939 – First successful surgical repair.Gastrostomy , 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 23

Further Developments 1945-1965 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

Associated Abnormalities Incidence of Associated Anomalies in Esophageal Atresia. Anomaly Frequency(%) Congenital heart disease 25 Urinary tract 22 Orthopaedic (mostly vertebral and radial) 15 Gastrointestinal (e.g., duodenal atresia,imperforate anus) 22 Chromosomal (usually trisomy 18 or 21) 7 Total with one or more associated 58 anomalies

System affected Musculoskeletal Gastrointestinal Cardiac Genitourinary. Potential anomalies Hemivertebrae, radial dysplasia or amelia, polydactyly, syndactyly, rib malformations, scoliosis, lower limb defects Imperforate anus, duodenal atresia, malrotation, intestinal malformations, Meckel's diverticulum, annular pancreas VSD, PDA, tetralogy of Fallot, ASD, single umbilical artery, right-sided aortic arch Renal agenesis or dysplasia, horseshoe kidney, polycystic kidney, ureteral and urethral malformations, hypospadias

DiGeorge Sequence. Polysplenia sequence. Holt-Oram Syndrome. Peirre Robin Sequence. Feingold Syndrome. Fanconi Syndrome. Townes-Brock Syndrome. Bartsocas-Papas Syndrome. McKusic

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

Type of Surgery: Thoracotomy: Extra-pleural Trans pleural

Comparison of the techniques: Thoracotomy: Scoliosis. Winged scapula. Chronic pain. Shoulder weakness. Chest wall deformity. Maldevelopment.

VAT: Superior visualization, Improved cosmesis. Limited working space, lack of articulation of instruments, tying suture under tension. 2-4 H op time, 30-50% stenosis, 12-15% leak, 30-50% GER. Feasibility

Thoracoscopic Repair: Newest approach Fewer musculoskeletal sequelae Winging of the scapula Asymmetrical chest wall Thoracic scoliosis Breast maldevelopment Asymmetrical chest wall – atrophy of serratus anterior 32

Complications of Surgery Acute -Anastomotic leak Pathogenesis Use silk sutures at the anastomosis Excessive anastomotic tension Excessive distal esophageal mobilisation Colonic interposition – graft necrosis Reintubation in the ICU. Missed another fistula Sutures usually Vicryl Not surprisingly more common in long gap – 54% compared with 11% in primary Leak documented in up to 75% 33

Anastomotic leak: Mostly managed with adequate drainage & nutritional support, 95% close spontaneously. Major disruption occur 3% to 5% of postoperative leak, typically recognized early Factors for leak: Poor surgical technique Ischemia of esophageal ends Use of myotomy Excessive tension at anastomoticsite Reoperation: control sepsis with drainage and repair by pleural or pericardial patch, with or with out intercostals muscle flap buttress.

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

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-esophageal reflux Narrowing requiring at least 2 dilatations Occurs in 75% of patients following anastomotic leak 36

Anastomotic stricture: Spitz & hitchcock defined stricture as the presence of symptoms: dysphagia & recurrent respiratory probles from aspiration or forgine body obstruction & narrowing noted on endoscopy. Stricture require dilatation occur up to 80% of patient. Factors responsible: Poor anastomotic technique: excessive tension, two-layered anastomosis, silk suture, Ischeamia at ends, GER, Anastomotic leak. Traditionally treated by dilatation: antegrade or retrograde bouginage using Savory dilator, Gruntzig balloon dilator 53% respond to single dilatation in the first month.

Long Term Complications Esophageal function Disordered Esophageal Motility Barium swallow Esophageal function tests Manometry PH Studies. Surgery restores gastro-oesophageal continuity but does not ensure normal oesophageal function

Continued,,, Moderate- severe GERD, Reflux and disordered motility Esophagitis Pulmonary symptoms Incompetent gastro-esophageal sphincter ? Iatrogenic hiatus hernia 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

14% incidence of tracheobronchial abnormalities: ectopic or absent right upper lobe, congenital bronchial stenosis and a decreased ratio of circumferential cartilaginous trachea to membranous trachea. EA associated with abnormalities of Vagal nerve innervations that are not related to surgical intervention.

Outcome: Between 1939 to 1969 Dr. Haight did 284 infants with EA and report as 52% overall survival rate. 85-95% overall survival. H-type fistula have less association. VACTERL association have high mortality .

Risk factors & Survival Group Waterston Classification A 100% Birth wt >2500gm, otherwise healthy B 85% Birth wt 2000-2500,otherwisewell, or Higher wt with moderate anomaly (non cardiac anomaly plus PDA, VSD, ASD) C 65% Birth wt< 2000gm & otherwise well, or Higher wt with sever associated cardiac anomaly

Predictor of survival group Spit’s I Birth weight>1500g with out major congenital heart disease 97% II Birth weight <1500 g or major congenital heart disease 59% III Birth weight < 1500 g and congenital heart disease 22%

Risk for death: Inceased risk of death & long term morbidity include: 1.Lower birth wt (<1500 g) & prematurity. 2.Major CHD. 3.Sever associated anomaly & ventilator dependent 4.Long gap EA. Delayed presentation, aspiration and pneumonia Anastomotic leak and chest sepsis.

In Summary Survival for patients with EA and TOF is Excellent Goal is 100% survival in a full term NN with B.W >2.5 Kg. Postoperative care is as important as surgery Symptoms relating to dysmotility and reflux have a significant impact thus, consider Fundoplication.