Genetic study of aortic stenosis

Approval date

Aortic stenosis (AS) occurs when the heart's aortic valve narrows. This prevents the valve from opening fully which reduces the blood flow from your heart into the main artery to your body and onward to the rest of your body. Despite the large burden of disease due to AS, no large scale genetic studies of clinical AS have been performed. Knowledge of the genetic determinants of AS could help explain the biological mechanisms leading to clinical valvular heart disease. Dr. Thanassoulis and his team aim to validate recent findings from a study of aortic valve calcification in a case-control study of clinical AS, and to identify novel genetic variants associated with AS. Their project will allow for the discovery of new common genetic variants associated with AS, which will lead to an improved understanding of the underlying biology of AS and may provide future insights into the prevention of this disease.