IP: Dr. Arturo Evangelista Massip

Resumen del proyecto: The aim of the present study is to describe the genetic basics of bicuspid aortic valve (BAV). In particular we aim to define the relationship between genetic variance, valve phenotype and aortic biomechanics. With this purpose we will perform a GWAS analysis of 500 patients with definite aortic bicuspid valve from 9 specialized centers experts in this disease. Familiar screening with echocardiography will be performed to assess phenotypic congruence in BAV morphology and ascending aorta dilation. In BAV patients we will relate aortic dilatation and BAV morphology, valvular dysfunction and clinical variables. Magnetic resonance will be performed in patients with BAV without valvular dysfunction to evaluate biomechanical aortic properties and 4D MRI will assess ascending flow direction in a subgroup of them. The results of the present study will define the risk of ascending aorta complications based on genetic, echocardiographic and MRI information. These results may have significant implications in the folow-up and therapeutical management of BAV patients.

Entidad financiadora: Ministerio de Ciencia e Innovación. Instituto de Salud Carlos III