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Persistent fifth aortic arch associated with 22q11.2 deletion syndrome

Meng-Luen Lee1, Hsiao-Neng Chen, Ming Chen

  • 1Division of Pediatric Cardiology, Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan. ferdielee@yahoo.com

Journal of the Formosan Medical Association = Taiwan Yi Zhi
|April 19, 2006
PubMed

Insights

Chromosome 22q11.2 deletion is linked to heart defects and other issues in children with persistent fifth aortic arch. Early suspicion is key when these conditions appear together.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Cardiology
  • Clinical Genetics

Background:

  • Chromosome 22q11.2 deletion is a known cause of conotruncal malformations and aortic arch anomalies.
  • Persistent fifth aortic arch is a rare congenital anomaly.
  • The association between these conditions and 22q11.2 deletion requires further investigation.

Purpose of the Study:

  • To investigate the association between chromosome 22q11.2 deletion and clinical manifestations in pediatric patients presenting with persistent fifth aortic arch.
  • To identify common phenotypic features in patients with both persistent fifth aortic arch and conotruncal malformations.

Main Methods:

  • Retrospective analysis of four pediatric patients diagnosed with persistent fifth aortic arch and conotruncal malformations.
  • Review of clinical data, imaging studies (echocardiograms, angiograms), surgical findings, and cytogenetic analysis.
  • Evaluation for cardinal phenotypic features of 22q11.2 deletion syndrome.

Main Results:

  • All four patients exhibited cardinal phenotypic features of 22q11.2 deletion syndrome.
  • These features included cardiovascular malformations, abnormal facies, thymic hypoplasia, palatal anomalies, and hypocalcemia.
  • Cytogenetic studies confirmed chromosome 22q11.2 deletion in all four patients.

Conclusions:

  • The co-occurrence of congenital conotruncal malformations and aortic arch anomalies, such as persistent fifth aortic arch, should raise suspicion for chromosome 22q11.2 deletion.
  • Presence of any additional cardinal phenotypic feature strengthens the suspicion for 22q11.2 deletion.
  • Genetic testing for 22q11.2 deletion is recommended in pediatric patients with these combined anomalies.
Abstract

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