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VACTERL associations in children undergoing surgery for esophageal atresia and anorectal malformations: Implications

Timothy B Lautz1, Ankur Mandelia1, Jayant Radhakrishnan2

  • 1Division of Pediatric Surgery, Department of Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Journal of Pediatric Surgery
|April 28, 2015
PubMed

Insights

VACTERL associations are common in children with esophageal atresia/tracheoesophageal fistula (EA/TEF) and anorectal malformation (ARM). Cardiac issues are more frequent with EA/TEF, while spinal and renal anomalies are more common with ARM.

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Developmental Biology

Background:

  • VACTERL (Vertebral, Anal, Cardiac, Tracheo-Esophageal, Renal, Limb) anomalies represent a complex spectrum of congenital malformations.
  • Understanding the co-occurrence patterns of these anomalies is crucial for comprehensive patient management and genetic counseling.

Purpose of the Study:

  • To compare the incidence and types of VACTERL associations in pediatric patients undergoing surgery for esophageal atresia/tracheoesophageal fistula (EA/TEF) versus anorectal malformation (ARM).

Main Methods:

  • Utilized the Pediatric Health Information System (PHIS) database from 2004-2012, encompassing data from 43 children's hospitals.
  • Identified and cross-referenced surgical records for EA/TEF and/or ARM with diagnoses of vertebral, cardiac, renal, and limb anomalies.
  • Analyzed records for children meeting criteria for VACTERL diagnosis (3 or more associated anomalies).

Main Results:

  • In 2689 EA/TEF repairs, VACTERL associations included: 25.5% vertebral, 11.6% ARM, 59.1% cardiac, 21.8% renal, and 7.1% limb defects. 33.4% met VACTERL criteria.
  • In 4962 ARM repairs, VACTERL associations included: 31.5% vertebral, 40.4% cardiac, 7.0% EA/TEF, 34.7% renal, and 7.2% limb defects. 36.2% met VACTERL criteria.
  • Significant differences in anomaly clusters were observed between the two groups.

Conclusions:

  • VACTERL associations are prevalent in both EA/TEF and ARM patient cohorts.
  • Congenital heart disease is a more frequent co-occurrence in EA/TEF, whereas vertebral and renal/urinary anomalies are more common in ARM.
  • These findings highlight distinct patterns of VACTERL component associations based on the primary congenital anomaly.
Abstract

Keywords:
Anorectal malformationEsophageal atresiaTrachea-esophageal fistulaVACTERL

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