2022 Volume 31 Issue 9 Pages 579-585
Moyamoya disease (MMD) is a rare cerebrovascular disease with unknown etiology which is characterized by progressive stenosis at the internal carotid artery terminus and an abnormal vascular network formation at the base of the brain. Recent genetic analysis in East Asian patients identified RNF213 as an important susceptibility gene. The RNF213 c.14576G＞A (p. R4810K) variant was identified in approximately 80% of MMD patients in Japan. The variant was significantly correlated to disease onset at a younger age and the clinical severity. More recently, RNF213 appears to be associated with negative remodeling of the intracranial arteries, such as outer diameter narrowing and vessel wall thinning. Direct revascularization surgery prevents cerebral ischemic attack by improving cerebral blood flow. Recent evidence further suggested that direct revascularization reduces the risk of re-bleeding in MMD patients with posterior hemorrhage, who have extremely high annual re-bleeding rate. Intensive perioperative management should promptly avoid surgical complications including cerebral hyperperfusion syndrome and perioperative ischemia.
