Epidemiology and genetics of calcific aortic valve disease

Abstract

Calcific aortic valve disease is a common condition in the elderly and is associated with significant morbidity and mortality. Although biologically plausible roles in disease pathogenesis have been proposed for both lipoproteins and the renin-angiotensin system, no properly controlled, randomized trials have demonstrated that any pharmacologic therapy slows development of the disease. This review defines the stages of calcific aortic valve disease; discusses the role of nonechocardiographic techniques, such as cardiac computed tomography, that may allow identification and study of earlier-stage disease; reviews associated epidemiologic factors; and summarizes recent studies of "novel" risk factors, such as metabolic syndrome and inflammatory biomarkers. Finally, the role of genetics in this disease is receiving greater attention, and recent studies are reviewed that examine genetic polymorphisms and identify single-gene defects associated with this disease. Together these latter sets of studies emphasize that unique "nonatherosclerotic" factors can influence calcific aortic valve disease development, suggesting the possibility of novel therapeutic strategies for this condition.