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Related Experiment Videos

Familial thoracic aortic dilatations and dissections: a case control study

A Biddinger1, M Rocklin, J Coselli

  • 1Department of Internal Medicine, University of Texas Houston Medical School 77030, USA.

Journal of Vascular Surgery
|March 1, 1997
PubMed
Summary

First-degree relatives of patients with thoracic aortic aneurysms have an increased risk of developing these aneurysms and experiencing sudden death, suggesting a genetic link. This highlights the importance of family history in identifying individuals at risk.

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Area of Science:

  • Cardiovascular Genetics
  • Aortic Diseases
  • Familial Aggregation Studies

Background:

  • Genetic factors are implicated in common diseases.
  • Familial aggregation studies can reveal genetic contributions.
  • Thoracic aortic aneurysms and dissections have significant morbidity and mortality.

Purpose of the Study:

  • To investigate the familial aggregation of thoracic aortic aneurysms and dissections.
  • To compare the prevalence of aortic conditions and sudden death in relatives of affected patients versus a control group.

Main Methods:

  • 158 patients with thoracic aortic aneurysms/dissections (probands) and 843 first-degree relatives were studied.
  • A control group of 547 relatives of proband spouses was included.
  • Prevalence of thoracic and abdominal aortic aneurysms, dissections, sudden death, and myocardial infarctions were compared between groups.

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Main Results:

  • First-degree relatives of probands showed a higher prevalence of thoracic aortic aneurysms and sudden death compared to controls.
  • Relative risks for thoracic aortic aneurysm development were elevated in fathers (1.8), brothers (10.9), and sisters (1.8).
  • A definitive inheritance pattern for thoracic aortic aneurysms was not established.

Conclusions:

  • First-degree relatives of probands face an elevated risk of thoracic aortic aneurysms and sudden death.
  • These findings support a role for genetic factors in the etiology of thoracic aortic aneurysms.
  • This research aids in identifying at-risk individuals for thoracic aortic aneurysms.