Genetics of Calcific Aortic Stenosis – Time to Move Forward

Knowledge of the genetic determinants of aortic stenosis (AS) could help elucidate the underlying mechanisms leading to clinical valvular heart disease and could potentially aid in the development of new therapies to prevent or retard valvular heart disease. However, despite the large burden of disease due to AS, no large-scale genetic studies of AS have been reported. Research on the genetics of valvular heart disease remains at least several years behind that of myocardial infarction, coronary artery disease and several other cardiovascular diseases. To date, with few important exceptions, human genetic research in calcific aortic valve disease has been quite limited. This review will provide a summary of the genetic literature on human calcific AS and provide future directions for genetic research in aortic valve disease.