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Oral Presentation - 3
Revisiting VACTERL association in patients with esophageal atresia with an emphasis on skeletal anomalies
Gonca Gerçel 1, Ahmet Pirim 1, Sabriye Gülçin Bozbeyoğlu 2, Sibel Sevük Özumut 3, Sinem Aydöner 1, Meltem Çağlar 1, Çiğdem Ulukaya Durakbaşa 1
1 Department of Pediatric Surgery, Istanbul Medeniyet University, Faculty of Medicine, Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Türkiye
2 Department of Radiology, Istanbul Medeniyet University, Faculty of Medicine, Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Türkiye
3 Department of Neonatology, Istanbul Medeniyet University, Faculty of Medicine, Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Türkiye
Purpose: In depth assessment of VACTERL association focusing on skeletal anomalies in esophageal atresia (EA) patients.
Method: 168 EA patients were evaluated as those without a distal fistula (D-TEF), namely Types A and B (9.5%, n=16), those with a D-TEF, namely Types C and D (86.9%, n=146), and Type E (3.6%, n=6). D-TEF patients were subdivided into short-gap (84.2%, n=123) and long-gap (gap length ≥4 vertebrae, 15.8%, n=23) atresias. A single radiologist retrospectively reviewed the radiographs by a standardized protocol.
Results: There were 93 males (55.4%) and 75 females (44.6%). Mean gestational age and birth weight were 36.63±3.07 (28-41) weeks and 2528.17±730.11 g (849-4300), respectively. Long-gap D-TEF patients had lower gestational age and birth weight (p=0.014 and p=0.001). Vertebral anomalies were present in 17.9%, rib anomalies in 14.9%, renal anomalies in 19.8%, limb anomalies in 9.5%, and cardiac anomalies in 38.1% (28.1% were major). There was a significant correlation between vertebral and rib anomalies (p<0.05), and between vertebral anomaly location and EA subtype (p<0.05). 100% of vertebral anomalies were lumbosacral in Type E, 60.0% were combined in Types A and B, and 58.3% were cervicothoracic in Types C and D. Limb anomalies were present in 25% of in Types A and B, and 7.5% of Types C and D, with a significant association between limb anomalies and EA subtype (p=0.047). Anorectal malformations (ARM) were present in 12.5% and more frequent in long-gap D-TEF patients (30.4%, p=0.010). ARM was identified as an independent predictor of long-gap EA (OR=4.455, p=0.007). VACTERL association was observed in 25.6% of patients, without an association with EA type (p=0.211). Overall mortality was 13%, significantly higher in long-gap D-TEF patients (45.5%, p<0.001).
Conclusion: Skeletal anomalies are common in all EA types. Limb anomalies are more frequently observed in Types A and B, whereas cervicothoracic vertebral anomalies predominated in Types C and D, highlighting subtype-specific patterns. A long-gap atresia in D-TEF patients is associated with lower gestational age, lower birth weight, higher ARM prevalence, and increased mortality. Although typically non-lethal, skeletal anomalies may affect long-term function and quality of life. Thus, a standardized screening should be an essential part of evaluation.