Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia

Abstract

In patients with familial hypercholesterolaemia, aortic stenosis is common in homozygotes, and aortic root involvement is always present despite the lower CYS than in heterozygotes. It appears to be determined by short term exposure to high cholesterol concentrations in early life. Conversely, aortic root and valve involvement are rare in heterozygotes and occur only with severe, prolonged hypercholesterolaemia, possibly accelerating age related degenerative effects.