Atresia de esôfago com história familiar positiva: um relato de caso

Abstract

INTRODUCTION: Esophageal atresia is a malformation marked by discontinuity of the esophagus, where the proximal part ends in a cul-de-sac, with or without the presence of a fistula with the trachea. An incidence pathology of 1 in every 2500 to 4500 live births, predominantly in individuals of white race and males, whose diagnosis can be made in the prenatal period by ultrasound or in the post-natal period when the clinical suspicion is present. The diagnosis must be early for treatment success, avoiding complications such as the evolution from pneumonia to respiratory failure. In view of the investigation, family history can be an alert for early suspicion. OBJECTIVES: To describe a case of esophageal atresia with distal tracheoesophageal fistula associated with heart disease, diagnosed after birth, in a female child, who had a positive family history for this condition, in the absence of a diagnosis of known genetic syndromes. METHOD: This is a descriptive observational study with data collection from the patients record at the Maternity Hospital. Literature reviews were carried out on platforms such as Lilacs, Scielo, Pubmed and research in Pediatric and Pediatric Surgery books on the subject. CONCLUSIONS: In the reported case, the diagnosis occurred after birth, with the newborn being referred early for surgical evaluation, which presented a successful approach, without complications. We hope that with the report, it will be possible to establish the family history as a point of the anamnesis to be valued in the investigation of the newborn.