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Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference

Milan Jaiswal1,2, Lucas Ribe3, Rana O Afifi3

  • 1Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, TX.

Journal of Vascular Surgery Cases and Innovative Techniques
|January 6, 2025
PubMed

Insights

Mutations in the TGFB2 gene cause Loeys-Dietz syndrome, a form of heritable thoracic aortic disease. This report details the multidisciplinary management of patients with distinct TGFB2-related Loeys-Dietz syndrome presentations.

Area of Science:

  • Genetics
  • Cardiology
  • Vascular Surgery

Background:

  • Heritable thoracic aortic diseases (HTADs) result from mutations in numerous genes.
  • TGFB2 mutations are a known cause of Loeys-Dietz syndrome (LDS), a specific type of HTAD.
  • Multidisciplinary collaboration is crucial for managing complex HTAD cases.

Keywords:
Aortic dissectionGenetic testingHTADHeritable thoracic aortic diseasesLDSLoeys-Dietz syndromeTGFB2

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