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Aortic dilation in pediatric patients

Yuri A Zarate1,2, Elizabeth Sellars3, Tiffany Lepard4

  • 1Section of Genetics and Metabolism, Department of Pediatrics, The University of Arkansas for Medical Sciences, Little Rock, AR, USA. yazarate@uams.edu.

European Journal of Pediatrics
|June 14, 2015
PubMed

Insights

Aortic dilation in children is often linked to congenital heart disease, particularly bicuspid aortic valve. Genetic conditions are frequent, underscoring the need for genetic evaluation in diagnosing aortic root dilation.

Area of Science:

  • Pediatric Cardiology
  • Cardiovascular Genetics
  • Medical Diagnostics

Background:

  • Aortic dilation is frequently associated with congenital heart defects like bicuspid aortic valve and connective tissue disorders.
  • Limited data exists on the differential diagnosis of aortic dilation in pediatric populations.
  • Congenital heart disease is a common comorbidity in children with aortic dilation.

Purpose of the Study:

  • To determine the frequency of various associated diagnoses in children presenting with aortic dilation.
  • To analyze the prevalence of congenital heart disease, genetic syndromes, and other conditions contributing to aortic dilation in pediatric patients.
  • To identify specific diagnoses associated with more severe aortic dilation and need for surgical intervention.

Main Methods:

  • Retrospective analysis of 377 pediatric patients diagnosed with aortic dilation.
  • Classification of patients based on suspected or confirmed diagnoses including congenital heart disease, chromosomal abnormalities, Marfan syndrome, Loeys-Dietz syndrome, and other genetic/non-genetic conditions.
  • Statistical comparison of clinical outcomes, such as severity of dilation and need for surgery, across different diagnostic categories.

Main Results:

  • Congenital heart disease was the most frequent diagnosis (64%), with bicuspid aortic valve being the predominant defect (85% of CHD cases).
  • Genetic conditions, including chromosomal abnormalities (9%) and Marfan syndrome (7%), were also significant contributors to aortic dilation.
  • Patients with Marfan syndrome showed a higher likelihood of severe ascending aorta dilation and aortic root replacement surgery compared to other groups.

Conclusions:

  • The differential diagnosis for pediatric aortic dilation is extensive, necessitating a thorough cardiac anatomical assessment.
  • Given the high prevalence of associated genetic conditions, consultation with a clinical geneticist is strongly recommended.
  • Early identification of underlying causes is crucial for managing aortic dilation and preventing complications.

Keywords:
Aortic dilationBicuspid aortic valveCongenital heart defectConnective tissue disordersMarfan syndrome

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