| Literature DB >> 28955114 |
Abstract
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.Entities:
Keywords: PTEN tumor hamartoma syndrome; arteriovenous malformation; capillary malformation–arteriovenous malformation; genetic mutations; hereditary hemorrhagic telangiectasia
Year: 2017 PMID: 28955114 PMCID: PMC5615386 DOI: 10.1055/s-0037-1604298
Source DB: PubMed Journal: Semin Intervent Radiol ISSN: 0739-9529 Impact factor: 1.513