Genome-wide association study of sporadic brain arteriovenous malformations.

Background: The pathogenesis of sporadic brain arteriovenous malformations (BAVMs) remains unknown, but studies suggest a genetic component. We estimated the heritability of sporadic BAVM and performed a genome-wide association study (GWAS) to investigate association of common single nucleotide polymorphisms (SNPs) with risk of sporadic BAVM in the international, multicentre Genetics of Arteriovenous Malformation (GEN-AVM) consortium.

Methods: The Caucasian discovery cohort included 515 BAVM cases and 1191 controls genotyped using Affymetrix genome-wide SNP arrays.

Spinal vascular malformations--typical and atypical findings.

Vascular malformations of the spinal cord and its meninges are rare diseases which comprise true inborn cavernomas and arteriovenous malformations (AVM), including perimedullary fistulae, glomerular and juvenile AVMs, and presumably acquired dural arteriovenous fistulae. This article gives an overview of the imaging features on magnetic resonance imaging (MRI) and digital subtraction angiography of both typical and atypical findings to describe the wide variety of possible pathological entities encountered. Clinical differential diagnoses, the neurological symptomatology and potential therapeutic approaches of these diseases, which may vary depending on the underlying pathology, are given.

Spinal epidural arteriovenous fistula with perimedullary drainage. Case report and pathomechanical considerations.

The classic angiographically demonstrated features of spinal dural arteriovenous fistulas are shunts of radiculomeningeal branches with radicular veins draining exclusively in the direction of perimedullary veins and thereby causing venous congestion. These shunts are located at the point where the radicular vein passes the dura mater. Spinal epidural arteriovenous shunts, however, normally do not drain into the perimedullary veins and are, therefore, asymptomatic, presumably because of a postulated reflux-impeding mechanism between the dural sleeves.