Abstract
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.
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