FIGURE 17. Evaluation and Genetic Testing Protocol for Patients With TAD.

Genetic testing is recommended for individuals with syndromic features, family history of TAD, and/or early age of disease onset. Thoracic aortic imaging is recommended for first-degree relatives of all individuals with TAD, regardless of age of onset, to detect asymptomatic aneurysms. Positive genetic testing should trigger gene-based management and cascade testing of at-risk relatives. When testing is negative or reveals variants of unknown significance, first-degree relatives should undergo screening aortic imaging. Modified with permission from Milewicz et al.⁶ Copyright 2021, Minerva Medica. Blue (+) indicates positive; green (−), negative; LDS, Loeys-Dietz syndrome; MFS, Marfan syndrome; TAAD, thoracic aortic aneurysm and dissection; TAD, thoracic aortic disease; vEDS, vascular Ehlers-Danlos syndrome; and VUS, variants of unknown significance. *Aneurysms are typically asymptomatic.