大動脈疾患を対象とした大規模成人大動脈センターにおける現行のACC/AHA遺伝子検査推奨事項の利用

Thoracic aortic aneurysms (TAA) are typically asymptomatic until rupture or dissection, with research indicating up to 20% may have a genetic basis. This study evaluates the prevalence of hereditary aortopathies and the utility of genetic testing in adults with TAA applying current ACC/AHA guidelines.

We assessed 1,323 consecutive adult patients presenting for TAA evaluation between July 2022 and April 2025 at a large aortic center, enrolling 426 patients who underwent guideline-driven genetic testing. Median(IQR) age was 57 (50-64) years, 22.8% were female, and 11.3% had BAV. Mean aortic diameter was 4.6±0.48cm; 67.1% had TAA and 2.1% had dissections. Statistical analyses assessed the prevalence of genetic aortopathies and risk factors.

Of the 426 patients, 2.6% had diagnostic tests identifying pathogenic variants, 68.3% tested negative, and 29.1% had variants of unknown significance(VUS). Diagnostic tests were significantly associated with younger age(p=0.05) and root aneurysms(p<0.001). No VUS associations were demonstrated. Gender and BAV were not associated with diagnostic tests or VUS. TAA diagnosis <60 years and familial history had the highest utility of the ACC/AHA recommendations, but were not significant.

Our findings suggest a lower prevalence of genotype-positive TAA than previously reported in all TAA patients; highlighting the need for more refined genetic testing criteria focusing on high-risk individuals. Further research is essential to better define genetic testing's role in TAA management.