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Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age

D B McElhinney1, D McDonald-McGinn, E H Zackai

  • 1Division of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104-4318, USA.

Pediatrics
|December 4, 2001
PubMed

Insights

Cardiovascular anomalies occur in 38% of older children with chromosome 22q11 deletion syndrome, with 14% requiring intervention. Screening is vital for those with respiratory or feeding issues.

Area of Science:

  • Medical Genetics
  • Cardiology
  • Pediatric Imaging

Background:

  • Chromosome 22q11 deletion syndrome frequently involves cardiovascular anomalies, often diagnosed neonatally.
  • Less common defects like vascular rings may present later in childhood.
  • Identifying these anomalies is crucial for timely management.

Purpose of the Study:

  • To determine the frequency and types of cardiovascular anomalies in patients diagnosed with chromosome 22q11 deletion after 6 months of age.
  • To assess the need for intervention in these patients.

Main Methods:

  • Study included 29 patients diagnosed with 22q11 deletion after 6 months of age, referred for cardiovascular evaluation.
  • Evaluations involved transthoracic echocardiography and/or magnetic resonance imaging, including aortic arch imaging.
  • Frequency of anomalies and need for intervention were assessed.

Main Results:

  • Cardiovascular anomalies were found in 11 (38%) patients.
  • Detected anomalies included vascular rings (3), right aortic arch variants (3), left aortic arch variants with aberrant subclavian artery (4), and persistent left superior vena cava (1).
  • Median age at diagnosis was 3 years; 4 patients required intervention (3 vascular ring repairs, 1 PDA occlusion).

Conclusions:

  • Cardiovascular anomalies requiring intervention occur in 14% of patients diagnosed with 22q11 deletion after 6 months.
  • Routine screening, including echocardiography and aortic arch imaging, is recommended for these patients.
  • Screening is particularly important for patients with respiratory or feeding disorders.
Abstract

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