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Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients

Cunera M C de Beaufort1,2,3, Tara M Mackay4, Markus F Stevens5

  • 1Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. c.m.debeaufort@amsterdamumc.nl.

Pediatric Cardiology
|June 5, 2024
PubMed

Insights

Congenital heart defects (CHD) occur in about one-third of patients with anorectal malformations (ARM). Screening for CHD in ARM patients is crucial, especially for those with VACTERL-association or genetic syndromes, as they face a higher risk.

Area of Science:

  • Pediatric Surgery
  • Cardiology
  • Medical Genetics

Background:

  • Anorectal malformations (ARM) are congenital anomalies that can be associated with other birth defects.
  • Congenital heart defects (CHD) are a known comorbidity in patients with ARM, impacting their overall health and management.
  • Understanding the prevalence and characteristics of CHD in ARM patients is essential for comprehensive care.

Purpose of the Study:

  • To provide an overview of disease and treatment details for CHD in patients with ARM.
  • To analyze trends in CHD screening and diagnosis over time within a large cohort of ARM patients.
  • To identify factors associated with the presence of CHD in ARM patients.

Main Methods:

  • Retrospective single-center cohort study of consecutive ARM patients from January 2000 to July 2023.
  • Data collection included patient demographics, ARM type, presence of CHD, and screening methods (echocardiography).
  • Statistical analyses, including uni- and multi-variable logistic regression, were used to identify associations with CHD.

Main Results:

  • Of 281 ARM patients, 80 (33.2%) had CHD. Echocardiography screening increased significantly over time (74.1% to 95.9%).
  • The proportion of diagnosed CHD remained stable (around 30-34%) across three time periods.
  • Atrial and ventricular septal defects were most common. VACTERL-association and genetic syndromes were independently associated with higher CHD risk.

Conclusions:

  • CHD are prevalent in ARM patients, with screening identifying significant numbers.
  • While screening rates improved, the overall diagnosis rate of CHD in ARM patients remained consistent.
  • VACTERL-association and genetic syndromes are key indicators for increased CHD risk in ARM patients, necessitating vigilant screening.

Keywords:
Anorectal malformationsChildrenCongenital heart defectsEchocardiographyScreening

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