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Dilated ascending aorta in a child with ring chromosome 21 syndrome

Alan F Rope1, Robert B Hinton, Robert L Spicer

  • 1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA. alan.rope@hsc.utah.edu

American Journal of Medical Genetics. Part A
|September 17, 2004
PubMed

Insights

Ring chromosome 21 syndrome, a rare genetic disorder, can present with dilated ascending aorta, a previously unreported finding. This suggests a potential connective tissue disorder linked to gene loss on chromosome 21q.

Area of Science:

  • Genetics
  • Medical Genetics
  • Rare Diseases

Background:

  • Ring chromosome 21 syndrome is a rare genetic disorder characterized by a specific set of clinical features.
  • Affected individuals typically exhibit dysmorphic features, developmental delays, growth retardation, and a propensity for congenital malformations across multiple organ systems.

Observation:

  • While structural cardiac anomalies are known in ring chromosome 21 syndrome, dilated ascending aorta has not been previously documented.
  • The occurrence of ectopia lentis, abdominal herniae, and dilated ascending aorta in affected individuals suggests a possible underlying connective tissue disorder.

Findings:

  • The study hypothesizes that haploinsufficiency of COL6A1, COL6A2, and/or COL18A genes, located on the distal 21q region lost in ring chromosome formation, may explain these connective tissue abnormalities.
  • This genetic mechanism provides a potential explanation for the newly observed association between ring chromosome 21 and dilated ascending aorta.

Implications:

  • This finding expands the known phenotype of ring chromosome 21 syndrome.
  • Identifying a potential genetic link to connective tissue disorders may guide future diagnostic and therapeutic strategies for affected individuals.
  • Further research into the role of the implicated genes in connective tissue integrity is warranted.

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