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