95 Identification Of Likely Pathogenic Variants In Patients With Bicuspid Aortic Valve: Correlation Of Complex Genotype With A More Severe Aortic Phenotype

Introduction

The common heritable condition of Bicuspid Aortic Valve (BAV) is phenotypically heterogeneous, with valve dysfunction and aortopathy the major complications. We report overrepresentation of rare, likely pathogenic variants in target genes in a large cohort of 176 patients with BAV. We also describe a more severe aortic phenotype in patients with more than one known or likely pathogenic variant, supporting a multi-hit...