Current understanding of the genetics of extracranial arteriovenous malformation

VernacularTitle: 颅外动静脉畸形的基因学研究进展
Author: Congzhen QIAO ¹ ; Yunbo JIN ; Yun ZOU ; Chen HUA ; Xi YANG ; Xiaoxi LIN
Author Information

1. Department of Plastic and Reconstructive Surgery, Shanghai Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Publication Type:Review
Keywords: Arteriovenous malformation; Capillary malformation-arteriovenous malformation; Hereditary hemorrhagic telangiectasia; PTEN hamartoma syndrome
From: Chinese Journal of Plastic Surgery 2018;34(9):777-780
CountryChina
Language:Chinese
Abstract: Arteriovenous malformation (AVM) is defined as a congenital vascular anomaly that shunts blood from arteries to veins with no capillary perfusion. In some rare hereditary diseases, including capillary malformation-arteriovenous malformation (CM-AVM), hereditary hemorrhagic telangiectasia (HHT), PTEN hamartoma-tumor syndrome (PHTS), AVM is generally considered the characteristic clinic presentation. This review primarily focused on the mechanisms of genetic regulation during embryonic vasculature development, genetic mutations in TGF-beta signaling pathway of HHT, PTEN mutations in PHTS and genetic screening of CM-AVM. In addition, current findings in somatic mutations of extracranial AVM were discussed as well. This review aimed to provide insight into the etiology to help the diagnosis and treatment of extracranial AVM in clinic.