Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?

Valeria E. Duarte, Raman Yousefzai, Michael N. Singh

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

Up to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant. This is a heterogeneous group of disorders known as heritable thoracic aortic diseases (HTAD). Diagnosing associated pathogenic gene variants and syndromes is critical, as the underlying genetics have an implication in medical management, surveillance, thresholds for surgical intervention, surgical risk, pregnancy risk, and risk of inheritance by the offspring. Recently released 2022 American College of Cardiology/American Heart Association guidelines for the diagnosis and management of aortic diseases provide specific recommendations to identify patients at risk for heritable conditions and who should undergo genetic testing.

Original languageEnglish (US)
Pages (from-to)24-28
Number of pages5
JournalMethodist DeBakey cardiovascular journal
Volume19
Issue number2
DOIs
StatePublished - 2023

Keywords

  • genetic testing
  • genetic variants
  • heritable thoracic aortic diseases (HTAD)
  • Marfan syndrome (MFS)
  • nonsyndromic HTAD
  • thoracic aortic aneurysms (TAD)
  • United States
  • Humans
  • Aortic Dissection
  • Syndrome
  • Pregnancy
  • Aortic Aneurysm, Thoracic/complications
  • Female
  • Aortic Diseases

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint

Dive into the research topics of 'Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?'. Together they form a unique fingerprint.

Cite this