Figure 1.—

Evaluation and genetic testing process for patients with thoracic aortic disease. Genetic testing is recommended for individuals with syndromic features, family history of TAAD and/or early age of disease onset. Thoracic aortic imaging is recommended for first-degree relatives of all individuals with TAAD regardless of age of onset to detect asymptomatic aneurysms. Genetic testing can lead to a positive result, triggering gene-based management and cascade testing of at-risk relatives. Individuals with negative or VUS results should be managed according to standards of care, which includes the recommendation for imaging in first-degree relatives.

LDS: Loeys-Dietz syndrome; MFS: Marfan syndrome; TAAD: thoracic aneurysms and acute dissections; VUS: variant of unknown significance.

*May be asymptomatic aneurysm.