Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?

Document Type

Article

Publication Title

Methodist DeBakey Cardiovascular Journal

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.

First Page

24

Last Page

28

DOI

10.14797/mdcvj.1218

Publication Date

1-1-2023

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