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Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects

W Aaron Kay1

  • 1Department of Medicine, Krannert Institute of Cardiology, Indiana University School of Medicine , Indianapolis, IN , USA.

Frontiers in Cardiovascular Medicine
|July 5, 2016
PubMed

Insights

Thoracic aortic dilation is common in conotruncal defects, potentially due to underlying connective tissue abnormalities. This review examines recent research on aortic dilation in CTDs and associated genetic mutations.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Histopathology

Background:

  • Thoracic aortic dilation (AD) is frequently observed in patients with conotruncal defects (CTDs).
  • Emerging evidence suggests a histologic abnormality, akin to connective tissue diseases like Marfan syndrome, underlies AD in CTDs.
  • Increased survival rates post-surgical correction of CTDs raise concerns about long-term aortic complications.

Purpose of the Study:

  • To review recent research on thoracic aortic dilation in patients with conotruncal defects.
  • To explore the underlying histologic and genetic factors contributing to AD in CTDs.
  • To discuss the implications of increased survival on aortic morbidity and mortality in this population.

Main Methods:

  • Literature review of recent studies on thoracic aortic dilation and conotruncal defects.
  • Analysis of data on histologic abnormalities in aortic tissue.
  • Examination of genetic mutations associated with connective tissue disorders and aortic disease.

Main Results:

  • Recent data suggest histologic abnormalities, similar to those in connective tissue diseases, are implicated in AD within CTDs.
  • Aortic dissection is rare in CTDs but poses a growing concern with patient longevity.
  • Genetic mutations are increasingly recognized as contributing factors to AD in CTDs.

Conclusions:

  • Underlying connective tissue abnormalities are a significant factor in thoracic aortic dilation associated with conotruncal defects.
  • Long-term surveillance for aortic complications like dissection and regurgitation is crucial for aging patients with CTDs.
  • Further research into genetic factors may offer new avenues for prevention and treatment.

Keywords:
aortic aneurysmaortic dissectionconotruncaltetralogy of Fallottransposition of great arteriestruncus arteriosus

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