Burrows Patricia E
Department of Radiology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
Semin Intervent Radiol. 2017 Sep;34(3):250-257. doi: 10.1055/s-0037-1604298. Epub 2017 Sep 11.
This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment.
本文描述了三种已知与动静脉畸形(AVM)相关的遗传性疾病,以及它们的临床、影像学特征和血管造影血管构筑。遗传性出血性毛细血管扩张症、毛细血管畸形-动静脉畸形(CM-AVM)和PTEN肿瘤错构瘤综合征是常染色体显性遗传疾病,由不同分子途径的突变引起,常伴有有症状的AVM。影像学生物标志物,包括好发部位、血管构筑和组织过度生长模式,有助于识别这些患者并选择合适的治疗方法。