Clinical and genetic risk factors and long-term outcomes of MRI vessel wall enhancement in moyamoya disease

Author:

Hao FangbinORCID,Han Cong,Lu Mingming,Wang Yue,Gao Gan,Wang Qiannan,Liu Shitong,Liu Simeng,Wang MinJieORCID,Yang Rimiao,Zou Zhengxing,Yu Dan,Sun Caihong,Zhang Qian,Zhang Houdi,Guo Qing-Bao,Wang Xiaopeng,Shen XuXuanORCID,Fu Heguan,Li JingJie,Ren Bin,Wang Hui,Zhang Hongtao,Tong Huaiyu,Liu WanyangORCID,Sun Zhenghui,Cai Jianming,Duan LianORCID

Abstract

AbstractBackgroundIntracranial vessel wall enhancement (VWE) on high-resolution magnetic resonance imaging (HRMRI) is associated with the progression and poor prognosis of moyamoya disease (MMD). However, the genetic background and risk factors for VWE in MMD have not been investigated. Therefore, this study assessed potential risk factors for VWE in MMD.MethodsWe evaluated MMD patients using HRMRI and traditional angiography examinations. The participants were divided into VWE group and non-VWE group based on the presence or absence of VWE on HRMRI. Logistic regression was performed to compare the risk factors for VWE in MMD. The incidence of cerebrovascular events of the different subgroups according to risk factors were compared using Kaplan – Meier survival and Cox regression.. STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) guidelines were followed for reporting our cohort study.ResultsWe included 283 MMD patients, 84 of whom had VWE on HRMRI. The VWE group had higher modified Rankin Scale scores at admission (P= 0.014) and a higher incidence of ischemia and hemorrhage (P=0.002) than did the non-VWE group. Multiple logistics regression shows risk factors for VWE included the ring finger protein 213 (RNF213) pR4810K variant (OR: 2.01 [95% confidence interval (CI), 1.08 - 3.76];P= 0.028), hyperhomocysteinemia (HHcy; OR: 5.08 [95% CI, 2.34 - 11.05],P< 0.001), and smoking history (OR, 3.49 [95% CI, 1.08-11.31],P= 0.037). During the follow-up of 63.9 ± 13.2 months (medium 65 months), 18 recurrent stroke events occurred. Cox regression showed that VWE andRNF213 pR4810Kvariant were risk factors for follow-up stroke.ConclusionTheRNF213 p.R4810Kvariant is strongly associated with VWE and poor prognosis in MMD. HHcy and smoking are independent risk factors for VWE; both are likely to induce the VWE phenomenon by affecting vascular endothelial function or causing vascular endothelial damage.

Publisher

Cold Spring Harbor Laboratory

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