Prospective Screening of Extracranial Systemic Arteriopathy in Young Adults with Moyamoya Disease.

ABSTRACT: Background RNF213 is a major susceptibility gene for moyamoya disease (MMD), characterized by chronic progressive steno-occlusion of the intracranial arteries. However, coincidental extracranial arteriopathy is sporadically described in a few cases and in children with MMD. Methods and Results This study prospectively enrolled 63 young adults (aged 20-49 years) without a known history of systemic vascular diseases who were confirmed to have definite (bilateral, n=54) or probable (unilateral, n=9) MMD, as per typical angiographic findings. Coronary and aorta computed tomography angiography was performed to characterize extracranial arteriopathy and investigate its correlation with clinical characteristics and MMD status, including the RNF213 p.Arg4810Lys variation (c.14429G>A,

SUBMITTER: Jee TK 

PROVIDER: S-EPMC7792364 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature