Genetic of Aortic Valve Stenosis - Clinical and Therapeutic Implications
Genetic of Aortic Valve Stenosis - Clinical and Therapeutic Implications
Pathophysiology of Aortic Valve Stenosis remains poorly known. The aim of the present study
 is to identify genetic factors involved in this disease using a case control trial design.
Aortic valve stenosis (AS) is the most common valvular disease and the second most common
 indication for cardiac surgery in Western countries. AS has long been considered as a passive
 and degenerative process. Recent data challenged this concept, showing that AS is an active
 and highly regulated process with some similarities to atherosclerosis. However,
 pathophysiology of AS remains poorly understood and preliminary data suggest that genetic
 factors may be involved. The aim of the present study is to identify genetic factors involved
 in this disease using a case control trial design (1000 patients with AS and 1500 controls
 with no evidence of valve disease). For all patients and controls, blood samples including
 DNA and echocardiography will be performed.
Patients:

 Inclusion criteria :

 -  Age >=18 years

 -  Pure isolated degenerative aortic valve stenosis

 Exclusion criteria :

 -  Rheumatic, congenital or post-radiation aortic stenosis

 -  Severe renal insufficiency (clearance < 30 ml/min)

 -  Aortic insufficiency > or = grade 2/4

 -  Other valve disease > or = grade 2/4

 Controls

 Inclusion criteria :

 - Age >=18 years

 Exclusion criteria :

 -  Known first degree relative with aortic valve stenosis

 -  Severe renal insufficiency (clearance < 30 ml/min)

 -  Any valve disease > or = grade 2/4