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A Prospective Management Strategy for Heterotaxy Syndrome with Intestinal Rotation Abnormalities: Imaging Does Not

Grant L Collins1, Angela E Hargis-Villanueva1, Meghna S Jayaraman1

  • 1Division of Pediatric Surgery, Department of Surgery, Phoenix Children's Hospital, 1919 E Thomas Rd., Phoenix, AZ, 85016, USA.

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PubMed
Summary

Children with Heterotaxy Syndrome (HS) and intestinal rotation abnormalities (IRA) require a specialized care pathway. Postnatal imaging is not a reliable predictor for surgical intervention needs in these complex cases.

Keywords:
Heterotaxy syndromeIntestinal rotation abnormalityMultidisciplinary pathway

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Area of Science:

  • Pediatric Surgery
  • Congenital Abnormalities
  • Gastroenterology

Background:

  • Heterotaxy syndrome (HS) impacts right-left anatomical development, affecting 3% of children with congenital heart disease.
  • Intestinal rotation abnormalities (IRA) are common in HS patients and often differ from typical malrotation patterns.

Purpose of the Study:

  • To develop a management pathway for HS patients with IRA.
  • To analyze imaging findings and clinical course in this patient population.

Main Methods:

  • A multispecialty focus group designed a management pathway after literature review.
  • Prospective enrollment of 18 HS patients with IRA from 2016-2019.
  • Abdominal ultrasound and upper GI series were performed, with symptom screening every three months initially, then annually.

Main Results:

  • 72.2% of patients were asymptomatic and did not require surgery.
  • 16.7% were symptomatic, requiring gastrostomy placement and Ladd procedure.
  • 11.1% experienced urgent exploration for suspected volvulus; surgery need did not correlate with imaging findings.

Conclusions:

  • Postnatal imaging in HS and IRA patients did not predict the need for intestinal surgery.
  • Volvulus or proximal obstruction can occur, necessitating surgical intervention for symptomatic patients.
  • A multidisciplinary pathway aids care coordination and family counseling regarding surgical likelihood.