[Congenital malformations associated with esophageal atresia (author's transl)]

Area of Science:

• Pediatric Surgery
• Clinical Genetics
• Developmental Biology

Background:

• Esophageal atresia (EA) is a congenital defect with significant morbidity.
• Associated anomalies are frequently observed in EA patients, impacting management and outcomes.
• The spectrum and prevalence of these anomalies require detailed investigation.

Purpose of the Study:

• To document the incidence of congenital anomalies in a cohort of esophageal atresia patients.
• To identify the frequency of Vater association among these patients.
• To discuss the potential etiopathogenic factors contributing to these malformations.

Main Methods:

• Retrospective review of 67 patients diagnosed with esophageal atresia.
• Systematic documentation of all identified congenital anomalies.
• Clinical assessment for features consistent with Vater association.

Main Results:

• Over 80% of the 67 patients with esophageal atresia exhibited associated congenital anomalies.
• Ten children (approximately 15%) were identified as potential carriers of Vater association.
• A wide range of malformations were observed, affecting various organ systems.

Conclusions:

• Congenital anomalies are highly prevalent in esophageal atresia.
• Vater association should be considered in the evaluation of EA patients with specific anomaly patterns.
• Further research into the etiopathogenesis of these co-occurring conditions is warranted.