AORTIC VALVE STENOSIS AND GENETIC DISORDERS: A SHORT REVIEW

Abstract

Aortic valve stenosis (AS) is the most common valvular heart disease in developed countries and a leading cause of cardiovascular morbidity and mortality among older adults. Traditionally considered a passive degenerative condition, AS is now recognized as an active disease involving inflammation, fibrosis, lipid deposition, and osteogenic calcification of the aortic valve. While aging and conventional cardiovascular risk factors contribute to disease development, genetic predisposition plays an important role, particularly in patients with early-onset disease or congenital valve abnormalities. Bicuspid aortic valve (BAV), the most common congenital cardiac malformation, is strongly associated with premature AS. Genome-wide association studies have also identified common variants, particularly in the LPA gene, that increase susceptibility to calcific aortic valve disease. Advances in molecular genetics have improved understanding of disease mechanisms and may facilitate earlier diagnosis, family screening, and targeted therapeutic approaches. This review summarizes the current evidence regarding the genetic basis of AS and discusses its clinical implications.