Whole Exome Sequencing in Bicuspid Aortic Valve Patients
Whole Exome Sequencing in Bicuspid Aortic Valve Patients
Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined
 by the presence of two sigmoid valves instead of three. It is conventionally associated with
 histological abnormalities of the wall of the ascending aorta, risk factors of aortic
 dystrophy observed in 50% of cases, and dissection. Long considered an accident of
 development, the discovery of mutations in the NOTCH1 gene in 2 families alternating BAV and
 aortic dystrophy suggests the existence of a genetic predisposition and a common genetic
 origin for these two pathologies.

 Data on the genetic basis of the BAV are still limited, but the existence of a large
 phenotypic diversity suggests the involvement of other genes. The establishment of large
 collections of DNA will allow great advances in this field.

 The purpose of this project is to confirm the existence of a genetic determinism at the
 origin of the BAV with or without dystrophy of non syndromic ascending aorta, identifying
 genetic defects associated with the presence of a BAV in a series of candidate genes.
Inclusion Criteria:

 -  bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography

 -  With or without an aneurysm of the ascending thoracic aorta nonsyndromic

 Exclusion Criteria:

 -  aortic syndromic pathology

 -  antecedent of acute articular rhumatism