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P7: Plenary Session 7

RS28 - Incidence and description of confirmed genetic mutations among patients with aortic pathology

Saturday, June 7, 2025
9:00 AM – 9:07 AM CT
Location: Morial CC, Second Floor, Room 208-210
Objectives: Despite important implications for the medical and surgical management of aortic aneurysm and dissection, the prevalence of genetic aortopathy and individual genetic variants remains poorly described. This study reports the type and frequency of genetic variants and associated aortic pathology within a multidisciplinary aortic program following implementation of standardized testing protocols.

Methods: Routine testing for genetic aortopathy was offered to patients who presented for cardiac or vascular surgery evaluation from January 2023 to November 2024. Standardized criteria for testing included age less than 70 years old at index presentation, or first-degree relative with a history of aortic aneurysm, dissection, or sudden unexplained death. The rate of positive testing and specific genetic mutations were described. Demographics, index aortic pathology, type of aneurysm or dissection, and operative treatment (if required) were assessed. Patients were stratified based on presence or absence of a genetic variant.

Results: A total of 257 patients (84%) completed testing; 49 patients (16%) deferred testing due to personal preference or secondary to insurance denial. Of the 52 patients (20.2%) with a genetic variant, 27 (52.0%) had TGF-beta signaling mutations, 16 (30.8%) had smooth muscle protein encoding mutations, 6 (11.5%) had collagen mutations, and 3 (5.7%) had dual or a BGN mutation. The most frequent mutations were associated with Marfan’s syndrome (19.3%), Loeys Dietz syndrome (17.2%), MYLK (11.5%), vascular Ehlers Danlos syndrome (9.6%), and ACTA2 (9.6%) (Table I). Patients with genetic aortopathy were younger (49.9 vs. 58.1 years, p < 0.01) and more likely to undergo surgery (80.8% vs. 62.6%, p = 0.02). Women accounted for 42.3% and 28.4% of patients with and without confirmed mutations, respectively. The rate of positive genetic testing was 27.5% for women and 16.9% for men. There were no differences in race, comorbidities, positive family history, emergent presentation, post-dissection aneurysm, and number of aortic surgeries (Table II). Aortic dissection accounted for 42.3% and 32.7% of index pathology for patients with and without positive genetic testing. There were no differences in aortic pathology, type of aneurysm or type of dissection at index presentation.

Conclusions: Positive genetic testing occurs in 20% of patients with aortic pathology, including 28% of women and 17% of men, referred to vascular and cardiac surgery teams at a quaternary referral center. Given the high positivity rate and impact of genetic aortopathy on medical management, threshold for repair, and operative approach, genetic testing should be considered for all patients presenting with aortic pathology.