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Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Erin Demo1, Christina Rigelsky2, Andrea L Rideout3

  • 1Sibley Heart Center Cardiology, 2835 Brandywine Road, Suite 300, Atlanta, GA 30341, USA.

The Medical Clinics of North America
|October 5, 2019
PubMed

Insights

Early diagnosis of heritable thoracic aortic disease (HTAD) is crucial. Genetic testing and evaluations guide cardiovascular management and risk assessment for affected individuals and families.

Area of Science:

  • Cardiovascular Genetics
  • Medical Diagnostics

Background:

  • Heritable thoracic aortic disease (HTAD) poses life-threatening risks if not identified early.
  • Early diagnosis and management are vital for individuals with HTAD and their at-risk relatives.

Purpose of the Study:

  • To highlight the importance of integrated cardiology and genetic evaluations for HTAD.
  • To emphasize the role of genetic testing in guiding clinical management and risk stratification.

Main Methods:

  • Review of clinical information including family history and medical history.
  • Integration of genetic testing results for diagnostic and management purposes.

Main Results:

  • Family and medical history provide essential information for risk assessment.
  • Genetic testing offers a definitive diagnosis, informing personalized cardiovascular care.
  • Genetic diagnosis aids in determining imaging frequency, surgical timing, and nonvascular feature evaluation.

Conclusions:

  • Genetic diagnosis is pivotal for comprehensive management of HTAD.
  • Familial testing based on genetic findings is essential for proactive healthcare in at-risk relatives.

Keywords:
Aortic aneurysmAortic dissectionGenetic counselingHeritable thoracic aortic disease (HTAD)Marfan

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