Ring Finger Protein 213 in Moyamoya Disease With Pulmonary Arterial Hypertension: A Mini-Review

Yuting Luo; Zhixin Cao; Shaoqing Wu; Xunsha Sun

doi:10.3389/fneur.2022.843927

Ring Finger Protein 213 in Moyamoya Disease With Pulmonary Arterial Hypertension: A Mini-Review

Front Neurol. 2022 Mar 24:13:843927. doi: 10.3389/fneur.2022.843927. eCollection 2022.

Authors

Yuting Luo¹, Zhixin Cao¹, Shaoqing Wu², Xunsha Sun¹

Affiliations

¹ Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
² Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Abstract

Moyamoya disease (MMD), most often diagnosed in children and adolescents, is a chronic cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Recently, many investigators show a great interest in MMD with pulmonary arterial hypertension (PAH). Ring finger protein 213 (RNF213) is a major susceptibility gene for MMD and also has strong correlations with PAH. Therefore, this review encapsulates current cases of MMD with PAH and discusses MMD with PAH in the aspects of epidemiology, pathology, possible pathogenesis, clinical manifestations, diagnosis, and treatment.

Keywords: Moyamoya disease; RNF213; idiopathic pulmonary arterial hypertension; peripheral pulmonary artery stenosis; pulmonary arterial hypertension.

Publication types

Review