Genetic Evaluation in Symptomatic Spontaneous Isolated Superior Mesenteric Artery Dissection

To explore the contribution of genetic risk factors to isolated superior mesenteric artery dissection (ISMAD), this study detected variations in known arterial dissection-related genes in a cohort of patients with symptomatic ISMAD. Thirty-two patients were recruited. Whole-exome sequencing was conducted on blood samples from all participants and 83 controls. Prevalence, clinical characteristics, treatments, and causative gene carriers were also studied. Eleven (34.4%) patients with ISMAD had pathogenic variants in COL3A1 (n = 3), COL12A1 (n = 3), TLN1 (n = 1), FN1 (n = 2), and TNXB (n = 2). Pathogenic variants in the COL3A1 and COL12A1 genes are strongly correlated with ISMAD. In 9.4% (3/32) of the patients with ISMAD, conservative treatment failed and further endovascular treatment was required. Among them, 2 (66.7%) harbored pathogenic mutations in COL3A1. Pathogenic variants in the COL3A1 gene are associated with a high predisposition to endovascular treatment (P = .02). COL3A1, COL12A1, and TLN1 mutations may be risk factors for ISMAD. A small proportion of patients with ISMAD and carrying pathogenic mutations in COL3A1 were more likely to experience more severe arterial tearing and require endovascular treatment.