Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Utilization of current ACC/AHA genetic testing recommendations for thoracic aortic disease at a large adult aortic center.
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Jabagi Habib, Shaw Richard E, Kontorovich Amy R, Alemany Victor S, Ciallella Caitlin, Burns Paul, Grau Juan B
Аннотация
PURPOSE: 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.
METHODS: We assessed 1323 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 bicuspid aortic valves. Mean aortic diameter was 4.6 ± 0.48 cm; 67.1% had TAA and 2.1% had dissections. Statistical analyses assessed the prevalence of genetic aortopathies and risk factors.
RESULTS: 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 = .05) and root aneurysms(P < .001). No VUS associations were demonstrated. Gender and bicuspid aortic valves 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.
CONCLUSION: 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.
METHODS: We assessed 1323 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 bicuspid aortic valves. Mean aortic diameter was 4.6 ± 0.48 cm; 67.1% had TAA and 2.1% had dissections. Statistical analyses assessed the prevalence of genetic aortopathies and risk factors.
RESULTS: 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 = .05) and root aneurysms(P < .001). No VUS associations were demonstrated. Gender and bicuspid aortic valves 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.
CONCLUSION: 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.