Genetic Polymorphisms, Plasma Levels of Lipoprotein (A) and its Possible Links with Degenerative Aortic Stenosis

Summary Degenerative aortic stenosis is the second most common acquired valvular heart disease in adults (after mitral insufficiency) and the second most common cause for cardiac surgery (after coronary heart disease). The reasons for the occurrence of these diseases (congenital abnormality of the valve: bicuspid aortic valve disease, advanced renal failure, impaired calcium-phosphorus metabolism) have been established only in a small portion of these patients. The absence of a specific reason, causing calcification and narrowing of the aortic valve in recent years has challenged researchers to start investigating genetic factors that may correlate with the development of degenerative aortic stenosis. Regardless of the conducted studies, knowledge and identification of predictive genetic factors in the occurrence and progression of aortic stenosis are still insufficient. It is assumed that a specific genetic variant in the Lipoprotein (a) locus (LPA locus), reflected by the Lipoprotein (a) [Lp(a)] plasma levels, is connected to the pathology of aortic stenosis in multiethnic groups. The study of the genetic nature of aortic stenosis and significance of Lp( a) plasma levels and genetically determined variations of its structure associated with the manifestation and progression of valvular calcification in the future might provide predictive intervention. Similar studies relating to genetic polymorphisms in LPA locus, plasma concentrations of Lp(a) and their correlation with aortic stenosis have not beenconducted in Bulgaria so far.