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Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease

Ellen S Regalado1, Shaine A Morris2, Alan C Braverman3

  • 1Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.

Journal of the American College of Cardiology
|August 25, 2022
PubMed

Insights

Heritable thoracic aortic disease (HTAD) risk varies by gene and variant type. Specific gene variants, like those in ACTA2 and TGFBR2, increase aortic event risk, especially with childhood onset, guiding personalized management.

Area of Science:

  • Cardiovascular Genetics
  • Aortic Diseases
  • Medical Genomics

Background:

  • Heritable thoracic aortic disease (HTAD) is linked to pathogenic variants in 11 genes.
  • Limited data exist to stratify aortic event risks associated with specific HTAD genes.

Purpose of the Study:

  • To compare the risk of first aortic events (thoracic aortic aneurysm surgery or dissection) among 7 HTAD genes.
  • To analyze risk differences based on variant types within each gene.

Main Methods:

  • Retrospective cohort study of 1,028 probands and relatives with rare variants in 7 HTAD genes.
  • Assessment of aortic event risk stratified by gene, variant type, sex, proband status, and recruitment location.

Main Results:

  • Significant differences in aortic event risk were found among smooth muscle contraction genes (ACTA2, MYLK, PRKG1) and Loeys-Dietz syndrome genes (SMAD3, TGFB2, TGFBR1, TGFBR2).
  • Variants in ACTA2, MYLK, PRKG1, and SMAD3 showed higher cumulative incidence of type A aortic dissection than surgery.
  • Variants in ACTA2, PRKG1, and TGFBR2 had higher cumulative incidence of type B aortic dissection.
  • Specific ACTA2 and TGFBR2 variants were linked to higher aortic event risk with childhood onset, even after adjustments.

Conclusions:

  • Gene- and variant-specific data are crucial for managing HTAD.
  • Findings support personalized aortic surveillance and clinical management strategies for individuals with HTAD.
Abstract

Keywords:
Loeys-Dietz syndromeaortic dissectionpathogenic variantprecision medicinethoracic aortic aneurysm

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