Impact of RNF213 p.R4810K variant on postoperative temporal muscle swelling used in encephalo-myo-synangiosis after combined revascularization for Moyamoya disease.

Abstract

Postoperative neurological deterioration due to brain compression by the swollen temporal muscle pedicle used in encephalo-myo-synangiosis (EMS) is a potential complication of combined revascularization for Moyamoya disease (MMD). However, the factors contributing to this phenomenon remain poorly understood. This study aimed to identify factors associated with postoperative temporal muscle swelling following combined revascularization. A total of 37 consecutive combined revascularization using temporal muscle pedicle performed between 2021 and 2023 were analyzed. Postoperative temporal muscle volume was measured through serial CT scans on postoperative days (POD) 0, 1, 7, 14, and 30. Multiple regression analysis was performed to assess factors contributing to swelling, including RNF213 p.R4810K variant, a known genetic risk for Asian MMD. Surgical outcomes and collateral vessel development were also examined. Results showed a significant increase in muscle pedicle volume on POD 1 and 7 across all 37 hemispheres, followed by a marked decrease by POD 30, compared to POD 0. These chronological volume changes were significant in adults (n = 31) but not in pediatric patients (n = 6). Multiple regression analysis identified the RNF213 p.R4810K as sole significant factor positively associated with maximal muscle volume (regression coefficient 0.485, P = 0.0078). Favorable surgical outcomes were achieved in 36 of 37 cases (97.3%) over a mean follow-up of 2.2 years, with indirect collateral development confirmed in 27 adult (87%) and 6 pediatric (100%) hemispheres. Results suggest the RNF213 p.R4810K variant is associated with increased postoperative temporal muscle swelling after combined revascularization, especially in adult MMD patients, indicating a potential genetic influence on this complication.