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6.1.2.1. HTAD: Genetic Testing and Screening of Family
Members for TAD
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 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.
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.
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. 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.
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.
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.
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.
