Abstract Details

We examined a single-institution cohort of patients with multivessel cervical artery dissection (CeAD), describing the clinical features and use of genetic testing in this population.

CeAD is a common cause of stroke in the young. While most cases involve a single vessel, 15-20% involve multiple vessels. Many connective tissue disorders (CTD) including Marfan syndrome, Ehlers-Danlos syndrome (type IV), and Loeys-Dietz syndrome are associated with increased risk of CeAD, but it remains unclear if genetic testing should be pursued in patients presenting with multivessel CeAD but no systemic evidence of CTD.

We performed a retrospective chart review of all cases of multivessel CeAD presenting to the Stanford Stroke Center between 2015-2019. Patients were excluded if they had a pre-existing diagnosis of a CTD or had CeAD as a result of direct extension from an aortic dissection.

Nineteen patients were included in the analysis. Mean age was 42 ± 14 years; 63% were women. Mean number of dissected vessels per patient was 2.3; of 44 affected vessels, there were 29 (66%) carotid and 15 (34%) vertebral dissections. Simultaneous dissections occurred in 63% and sequential dissections occurred in 53% (some had both). No obvious mechanical trigger was identified in 68%; when identified, the most common triggers were chiropractor neck manipulation (n=3) and violent retching (n=2). Stroke/TIA occurred in 58%; the remaining patients presented with pain or localized signs (Horner’s syndrome in six patients; tinnitus in three patients). Genetic testing with commercial gene panels for CTD was performed in 58% and was negative in nine patients, positive for Marfan syndrome in one patient, and positive for EDS IV in one patient.

In our cohort of multivessel CeAD, genetic testing failed to identify CTD in most tested patients. More research is needed to understand the utility of genetic testing in this population.