Recommendations for endoscopic surveillance after esophageal atresia repair in adults

SUMMARY Background Endoscopic surveillance of adults with esophageal atresia is advocated, but the optimal surveillance strategy remains uncertain. This study aimed to provide recommendations on appropriate starting age and intervals of endoscopic surveillance in adults with esophageal atresia. Methods Participants underwent standardized upper endoscopies with biopsies. Surveillance intervals of 3–5 years were applied, depending on age and histopathological results. Patient’s age and time to development of (pre)malignant lesions were calculated. Results A total of 271 patients with esophageal atresia (55% male; median age at baseline endoscopy 26.7 (range 15.6–68.5) years; colon interposition n = 17) were included. Barrett’s esophagus was found in 19 (7%) patients (median age 32.3 (17.8–56.0) years at diagnosis). Youngest patient with a clinically relevant Barrett’s esophagus was 20.9 years. Follow-up endoscopies were performed in 108 patients (40%; median follow-up time 4.6 years). During surveillance, four patients developed Barrett’s esophagus but no dysplasia or cancer was found. One 45-year-old woman with a colon interposition developed an adenoma with high-grade dysplasia which was radically removed. Two new cases of esophageal carcinoma were diagnosed in patients (55 and 66 years old) who were not under surveillance. One of them had been curatively treated for esophageal carcinoma 13 years ago. Conclusions This study shows that endoscopic screening of patients with esophageal atresia, including those with a colon interposition, can be started at 20 years of age. Up to the age of 40 years a surveillance interval of 10 years appeared to be safe. Endoscopic surveillance may also be warranted for patients after curative esophageal cancer treatment.

Nuss procedure for combined pectus excavatum and carinatum in a patient with a history of congenital esophageal atresia repair surgery

Cardiothoracic surgery usually causes tissue adhesion on the operation site which increases the risk of complications in the subsequent thoracic surgery including Nuss procedure. Disorders that require cardiothoracic surgery include chest wall deformities such as pectus excavatum, congenital heart diseases, lung diseases such as congenital cystic adenomatiod malformation and bronchopulmonary dysplasia, and congenital diaphragmatic hernia. Recently, we encountered a rare case of combined pectus excavatum and carinatum in a patient with a history of congenital esophageal atresia repair surgery. Commendably, despite tissue adhesion from the previous surgery, a modified Nuss procedure was performed successfully with no complications. We agree that the Nuss procedure is feasible for thoracic deformities in patients with a surgical history of cardiothoracic surgery.

Outcome of esophageal atresia: inborn versus outborn patients

Summary Esophageal atresia (EA) is a rare congenital disease which is usually not of the detected prenatally. Due to the lack of prenatal diagnosis, some newborns with EA are born outside of specialized centers. Nevertheless, centralized care of EA has been proposed, even if a clear volume–outcome association in EA management remains unconfirmed. Furthermore, whether outcomes differ between outborn and inborn patients with EA has not been systematically investigated. Therefore, this single-center, retrospective study aimed to investigate EA management and outcomes with a special focus on inborn versus outborn patients. The following data were extracted from the medical records of infants with EA from 2009 to 2019: EA type, associated anomalies, complications, and long-term outcome. Patients were allocated into inborn and outborn groups. Altogether, 57 patients were included. Five patients were excluded (referral before surgery, loss of data, death before surgery [n = 1], and incorrect diagnosis [diverticulum, n = 1]). Among all patients, the overall survival rate was 96%, with no mortalities among outborn patients. The overall hospitalization period was shorter for outborn patients. The median follow-up durations were 3.8 years and 3.2 years for inborn and outborn patients, respectively. Overall, 15% of patients underwent delayed primary anastomosis (long-gap atresia [n = 4] and other reasons [n = 4]). Early complications included three anastomotic leakages and one post-operative fistula; 28% of patients developed strictures, which required dilatation, and 38% of patients showed relevant gastroesophageal reflux, which required fundoplication, without any differences between the groups. The two groups had comparable low mortality and expected high morbidity with no significant differences in outcome. The outborn group showed nonsignificant trends toward lower morbidity and shorter hospitalization periods, which might be explained by the overall better clinical status.

COMBINATION OF ESOPHAGEAL ATRESIA WITH TRACHEOESOPHAGEAL FISTULA AND DUODENAL ATRESIA: TREATMENT ANALYSIS OF FIFTEEN PATIENTS

The combination of duodenal atresia (DA) with esophageal atresia with tracheoesophageal fistula (EA-TEF) is a rare pathology, the frequency of which ranges from 1% to 6% of all cases of EA. Surgical treatment of the DA+EA-TEF combination always causes significant difficulties, primarily in determining the timing and stages of surgical correction. Objective of the study: to evaluate the results of treatment with a combination of DA+EA-TEF to determine the effective tactics of surgical treatment. Materials and methods of research: a retrospective, nonrandomized, uncontrolled, multicenter study was carried out. The work is based on the results of treatment of 15 newborns – 6 (40%) boys, 9 (60%) girls with a combination of DA+EA-TEF, who were treated in clinics of 6 university centers for pediatric surgery in the Russian Federation in 2015–2021. Simultaneous operations (SIMOPs) were performed in 10 (60%) patients, two-stage operations (TO) – in 5 (40%) newborns. The following criteria were taken into account: the period of antenatal (weeks) and postnatal (days) of establishing the diagnosis of obstruction of the gastrointestinal tract (GIT), gestational age (weeks), birth weight (g), weight at the time of surgery (g), type of concomitant pathology , sequence and methods of surgical treatment, terms of complete enteral feeding (days), outcomes of operations and reasons for unsatisfactory outcomes. The average gestational age of children who underwent SIMOPs was 35.1 weeks. (Q1 – 31.5, Q3 – 39; Me – 37; SD – 5.1; min/max – 25–40; 95% CI: 31.1–39.0) versus 29.8 weeks. at DO (Q1 – 29, Q3 – 30.5; Me – 30; SD – 1.0; min/max – 28–31; 95% CI: 28.4–31.6) did not differ statistically significantly (р=0.083). The mean body mass values did not have statistically significant differences (p=0.081) and amounted to 2224 g (Q1 – 1410, Q3 – 2930; Me – 2665; SD – 890.8; min/max – 760–3260; 95% CI: 1556–2926) for SIMOPs, versus 1322 g (Q1 – 1165, Q3 – 1450; Me – 1380; SD – 196; min/max – 980–1450; 95% CI: 1078.4–16565) in the TO group. Results: the average duration of SIMOPs was on average 144.4 min (Q1 – 125, Q3 – 155; Me – 147.5; SD – 22; min/max – 120–190; 95% CI: 1321–159.3), TO – 147.0 (Q1 – 125, Q3 – 172; Me – 140; SD – 33.4; min/max – 120–205; 95% CI: 126–178.6). The sequence of surgical correction of defects in SIMOPs in 8 (53%) patients consisted of thoracotomy, ligation of the TEF, direct anastomosis of the esophagus and the imposition of duodeno-duodenoanstomosis (DDA). In one case, DDA was selected as the first operation, which was supplemented with Kader gastrostomy followed by thoracotomy, ligation of the TEF and anastomosis of the esophagus after elongation according to I. Livaditis. In one patient, after thoracotomy and ligation of the TEF in connection with an insurmountable diastasis of the esophagus, a cervical esophagostomy (CE), duodenojejunoanastomosis (DEA) and a gastrostomy according to Kader were applied. In a two-stage correction (TO), the first operation in 3 patients was DDA (20%), supplemented in one case (7%) with Kader gastrostomy, and the second stage after 2 days performed thoracotomy with the elimination of TEF and EA. In 2 (13%) newborns, the first stage was thoracotomy, elimination of TEF and EA, followed by imposition of DDA 2 days later. In one case, due to an insurmountable diastasis of the esophagus after thoracotomy and ligation of the TEF, intrathoracic elongation of the esophagus according to Foker with delayed anastomosis of the esophagus (on the 7th day) and laparoscopic fundoplication according to Nissen (at 5 months) were performed. The duration of hospitalization did not statistically significantly depend on the chosen method for correcting the combination of DA+EA-TEF (p=0.79) and averaged 28.4 days for SIMOPs (Q1 – 16, Q3 –34.5; Me – 26; SD – 21.4; min/max – 5.0–79; 95% CI: 17.6–42.4), and for TOs – 27,2 days (Q1 – 21, Q3 – 33; Me – 28; SD – 7.1; min/max – 19–38; 95% CI: 27.2–33). In the group of patients with SIMOPs, 2 deaths (13%) were recorded on the 5th and 7th days after surgery due to progressive multiple organ failure and intractable pulmonary hypertension. In one case (7%), a lethal outcome was recorded 8 months after primary surgery due to progressive cardiovascular failure. Early postoperative mortality after SIMOPs was 20%, overall mortality was 30%. In the TO group, 3 (20%) deaths were recorded: 2 in the early postoperative period (on day 3 and day 19) and one at the age of 3 months of life. Early postoperative mortality after TO was 40%, overall mortality – 60%. Conclusion: it is preferable to choose the ligation of the TEF as the first operation and, if the child's condition allows, to impose an esophageal anastomosis and restore duodenal patency, followed by a nasogastric tube through the esophageal anastomosis into the stomach. If, after ligation of the TEF, the patient's cardiorespiratory status does not stabilize, it is possible to restore the patency of the esophagus and pass the probe into the stomach without imposing a gastrostomy, which will allow the patient to be further treated as an isolated DA, and the operation to restore the patency of the duodenum is delayed. In the presence of insurmountable diastasis, the use of esophageal elongation technology with subsequent delayed EA is justified.

Stomach Volume Evaluation on Fetal MRI and its use in Prenatal Identification of Esophageal Atresia

Swallowing of amniotic fluid alters the volume of the fetal stomach; therefore an abnormal fetal stomach size can be indicative of pathology. Previous studies have used linear measurements on ultrasound to approximate stomach sizes. Fetal magnetic resonance imaging (MRI) allows for volumetric measurement of the stomach. The objective of this study was to develop a library of normal fetal stomach volumes on MRI at each gestational age. We also sought to measure stomach volumes of fetuses with esophageal atresia and compare to normal volumes at similar gestation ages (GA). A retrospective review of fetal MRIs from patients 20-38 weeks GA was conducted. Exclusion criteria for the controls included any impairment that would impede swallowing or alter stomach sizes. Patients with esophageal atresia were identified and postnatal records were reviewed to confirm the diagnosis. The stomach volume was measured on T2-weighted imaging using Phillips Intellispace software. The stomach volumes of the controls at each GA were compared using one-way ANOVA with Games-Howell Post-Hoc (p<0.05). The stomach volume in esophageal atresia was compared to controls using a T-test (p<0.001). 185 control studies, 10 at each week of gestation, and 8 patients with esophageal atresia were included. For normal fetuses, there was a trend of increased stomach size and broadened standard deviation with increasing GA. No significant difference was found between any two sequential weeks, however the difference in second and third trimester volumes was significant (p<0.001). The patients with esophageal atresia had significantly smaller stomach volumes compared to control patients of the same GA range (p<0.001). This pilot study established reference values for fetal stomach volume, which was found to increase with GA. The stomach volume is significantly smaller in patients with esophageal atresia. Thus, esophageal atresia can be identified prenatally, allowing for delivery at an appropriate acuity NICU and early intervention.

Esophageal Interventions in Infants Born with Esophageal Atresia: A Comprehensive Analysis of a National Database

Introduction Esophageal atresia (EA) is a rare malformation that often requires a series of procedures, including surgical primary anastomosis, staged repair, and endoscopic procedures. Actual numbers and trends in interventions and variety in treatment strategies remain unclear. Materials and Methods Data from the German federal bureau of statistics containing all EA-related inpatient procedures encoded from 2005 until 2018 were analyzed for children during the first year of life. The sum of esophageal anastomoses and replacements was used to calculate an estimate of incidence of EA. Results Over 14 years, 12,627,888 inpatient cases were recorded in infants in Germany. The mean incidence of EA was 1 per 4,217 live births. On average, 163.3 (95% confidence interval [CI]: 150.8–176.1) esophageal anastomoses, 11.2 (95% CI: 8.7–13.7) esophageal lengthening procedures, and 6.7 (95% CI: 5.42–8.00) esophageal replacements were recorded annually. Overall, 187.8 (95% CI: 147.1–200.4) endoluminal treatments (ballon dilatation, bougienage, stent placement, or injection) were performed per 100 anastomoses. Over the years, bougienage was increasingly replaced by ballon dilatation as primary treatment. Boys had a significantly higher number of esophageal procedures than girls, but the incidence of endoscopic treatments in relation to anastomoses was the same for both genders. Conclusion The low incidence of EA in relation to a relatively large number of units treating those patients in Germany may pose challenges for maintaining competency and training of all specialists involved. The number of esophagoscopic treatments for esophageal stricture per anastomosis is lower than previously estimated.

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix–loop–helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641). We present an occurrence of esophageal atresia (EA) with tracheoesophageal fistula in siblings from a three-generation family affected by variable expressivity of MYCN mutation p.(Ser90GlnfsTer176) as a diagnostic effect of searching the cause of familial esophageal atresia using NGS-based whole-exome sequencing (WES). All of our affected patients showed microcephaly and toe syndactyly, which were frequently reported in the literature. Just one patient exhibited clinodactyly. None of the patients exhibited brachymesophalangy or hypoplastic thumbs. The latest report noted that patients with EA and Feingold syndrome were also those with the more complex and severe phenotype. However, following a thorough review of the present literature, the same association was not found, which is also confirmed by the case we described. The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.