Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?

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.

Keywords: Marfan syndrome (MFS); genetic testing; genetic variants; heritable thoracic aortic diseases (HTAD); nonsyndromic HTAD; thoracic aortic aneurysms (TAD).