2025 American Academy of Neurology Abstract Website

Objective:

Determine the utility of commercial connective tissue genetic testing among patients with carotid artery dissections (CaAD).

Background:

While many risk factors have been associated with CaAD (including trauma, migraine, and hypertension), genetic vascular and connective tissue diseases are associated with an increased risk of CaAD and are not routinely evaluated for in patients with CaAD. Advancements in genetic testing have allowed for more thorough testing of genes thought to be implicated in CaAD, but the utility of routine genetic testing in this population has not been evaluated.

Design/Methods:

We conducted a retrospective analysis of patients with CaAD treated at the University of Utah between 2019-2024 who underwent an ARUP Laboratories aortopathy genetic panel which assesses 29 key genes associated with vascular dissections and aneurysms. Patients under 18 or without imaging confirmation of CaAD were excluded. Data regarding patient characteristics, CaAD risk factors, dissection locations, personal and family histories, and aortopathy panel results were collected.

Results:

From January 2019 and September 2024, 78 CaAD patients with genetic testing were identified (median age 48, 50% female, 96% white). Only one patient (1.3%) had a potentially pathogenic genetic variant (cystathionine beta-synthase c.833T>C), while 19 patients (24.4%) had variants of undetermined significance (VUS) in genes associated with aortopathy. Patients with confirmed pathogenic variants or VUSs had a higher prevalence of acute ischemic stroke (85.0% vs 44.6%, p=0.002) and multiple dissected vessels (55.0% vs 31.0%, p=0.04) compared to patients with no identified genetic variants; these groups did not otherwise vary significantly.

Conclusions:

Pathogenic variants were infrequent in patients with CaAD, and while VUSs were relatively common, their clinical implications remain uncertain. These results highlight the need for further research to determine the role of genetic testing in patients with CaAD and the significance of VUS in this population.