2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease

. Author manuscript; available in PMC: 2023 Dec 13.

Published in final edited form as: J Am Coll Cardiol. 2022 Nov 2;80(24):e223–e393. doi: 10.1016/j.jacc.2022.08.004

Recommendations for HTAD: Genetic Testing and Screening of Family Members for TAD

Referenced studies that support the recommendations are summarized in the Online Data Supplement.

COR	LOE	RECOMMENDATIONS
1	B-NR	1. In patients with aortic root/ascending aortic aneurysms or aortic dissection, obtaining a multigenerational family history of TAD, unexplained sudden deaths, and peripheral and intracranial aneurysms is recommended.^1–3
1	B-NR	2. In patients with aortic root/ascending aortic aneurysms or aortic dissection and risk factors for HTAD (Table 8, Figure 17), genetic testing to identify pathogenic/likely pathogenic variants (ie, mutations) is recommended.^4–6
1	B-NR	3. In patients with an established pathogenic or likely pathogenic variant in a gene predisposing to HTAD, it is recommended that genetic counseling be provided and the patient’s clinical management be informed by the specific gene and variant in the gene.^7–9
1	B-NR	4. In patients with TAD who have a pathogenic/likely pathogenic variant, genetic testing of at-risk biological relatives (ie, cascade testing) is recommended.^6,10,11 In family members who are found by genetic screening to have inherited the pathogenic/likely pathogenic variant, aortic imaging with TTE (if aortic root and ascending aorta are adequately visualized, otherwise with CT or MRI) is recommended.^4,5,12
1	B-NR	5. In a family with aortic root/ascending aortic aneurysms or aortic dissection, if the disease-causing variant is not identified with genetic testing, screening aortic imaging (as per recommendation 4) of at-risk biological relatives (ie, cascade testing) is recommended.^13–15
1	C-LD	6. In patients with aortic root/ascending aortic aneurysms or aortic dissection, in the absence of either a known family history of TAD or pathogenic/likely pathogenic variant, screening aortic imaging (as per recommendation 4) of first-degree relatives is recommended.¹³
1	C-EO	7. In patients with acute type A aortic dissection, the diameter of the aortic root and ascending aorta should be recorded in the operative note and medical record to inform the management of affected relatives.