Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Abstract

Background: Long-gap esophageal atresia (LGEA) may have clinical and syndromic presentations different from those of esophageal atresia (EA) that affects shorter segments of the esophagus (non-LGEA). This may suggest unique underlying developmental mechanisms. Objectives: We sought to characterize clinical differences between LGEA and non-LGEA by carefully phenotyping a cohort of EA patients, and furthermore to assess molecular genetic findings in a subset of them. Methods: This is a retrospective cohort study to systematically evaluate clinical and genetic findings in EA infants who presented at our institution over a period of 10 years (2005-2015). Results: Two hundred twenty-nine EA patients were identified, 69 (30%) of whom had LGEA. Tracheoesophageal fistula was present in most non-LGEA patients (158 of 160) but in only 30% of LGEA patients. The VACTERL association was more commonly seen with non-LGEA compared to LGEA (70 vs. 25%; p < 0.001). Further, trisomy 21 was more common in LGEA than in non-LGEA. 25% of LGEA patients had an isolated EA diagnosis without other anomalies, compared to <1% for non-LGEA. Chromosomal microarray analysis showed copy number variations (CNV) in 4 of 39 non-LGEA patients and 0 of 3 LGEA patients. A review of the ClinGen database showed that none of those CNV have been previously described with EA. Conclusions: LGEA represents a unique type of EA. Compared to non-LGEA, it is more likely to be an isolated defect and associated with trisomy 21. Further, it is less commonly seen with VACTERL anomalies. Our findings suggest the involvement of unique pathways that may be distinct from those causing non-LGEA.

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

“…The prevalence of EA/TEF is higher in Trisomy 21 compared to the general population (Freeman et al, 2009; Kallen, Mastroiacovo, & Robert, 1996); however, a specific association of Trisomy 21 with Gross Type A EA/TEF has not been previously reported. A study that characterized patients with long‐gap EA (Bairdain et al, 2017) noted that Trisomy 21 was significantly more common compared to nonlong‐gap EA. In our study, the length of gap was known for 6/13 patients with Trisomy 21, and one of them had long‐gap Type EA (1/6, 16%), a rate not different from the entire cohort ( N = 11/111, 10.5%).…”

Oesophageal atresia: Are “long gap” patients at greater anesthetic risk?

“…The surgical approach includes delayed primary anastomosis (at 3 months of age) with or without lengthening procedures such as the Foker procedure (traction suture oesophageal lengthening) or oesophageal replacement with gastric tube, gastric transposition, small bowel, or colonic transposition . Long gap OA has been identified as having distinct constellations of co‐morbidities and greater potential for long‐term hospitalization . Anesthetic management of OA is challenging especially in infants with a distal tracheoesophageal fistula where preferential ventilation of the fistula may cause profound hypoxia and potentially gastric perforation .…”

“…[5][6][7][8][9] Long gap OA has been identified as having distinct constellations of co-morbidities and greater potential for longterm hospitalization. 4,[10][11][12] Anesthetic management of OA is challenging especially in infants with a distal tracheoesophageal fistula where preferential ventilation of the fistula may cause profound hypoxia and potentially gastric perforation. 13,14 In contrast, it is not known whether long gap OA represents a greater anesthetic risk.…”

Position Paper of INoEA Working Group on Long-Gap Esophageal Atresia: For Better Care

“…There are countries where designated centers of expertise have been appointed by the government, like in France or the Netherlands ( 17 ). Some countries have major esophageal airway centers, like in the USA ( 18 , 19 ). Distance should not really be an issue, because the reconstruction usually takes place at a later time and traveling is not exceptional for patients nowadays.…”