Arteriosclerosis, Diagnostic procedure, CT, Cardiovascular system, Cardiac
D. K. Galaska, R. Galaska, J. Fijalkowska, M. Fijalkowski, A. Wegrzyn, E. Szurowska, M. Gruchala; Gdansk/PL
Familial hypercholesterolemia (FH) is an autosomal dominant disorder which can be caused by a mutation in the LDLR gene encoding the low-density lipoprotein (LDL) receptor (LDLR).
Early presence of coronary artery disease (CAD) and calcific aortic stenosis (CAS) are the major complications of untreated FH.
The relationship between vascular and valvular calcification is unclear.
Each may result from different pathogeneses and molecular mechanisms.
CAS was thought to be a 'degenerative' disease and part of the aging process but some evidence suggests that CAS is a result of active pathological process with some similarities to atherosclerosis.
The exact role of hypercholesterolemia in the pathogenesis of aortic stenosis remains unclear.
Recent data suggest that additional factors may contribute to the onset and progression of CAS such as osteogenic processes.
There is growing experimental evidence that the evolution of valvular calcifications appears to be,
at least in part,
independent of LDL-C levels and physiological signaling pathways involving LDLR-related protein (LRP) which could modulate this process can be dysregulated in LDLR mutation patients.
The aim of this study was to compare an aortic valve calcium score (AVCS) between patients with severe hypercholesterolemia and DNA-based diagnosis of familial hypercholesterolemia with confirmed LDLR mutation (LDLR-M group) versus patients with severe hypercholesterolemia and no LDLR alteration (LDLR-WT group).
we aimed to assess risk factors,
which correlated with high result of AVCS in both groups.