15289-s-bos

4 47 | Rebuttal AoVC in FH Keywords • Aortic valve calcification; • Calcific aortic stenosis; • Coronary artery calcification; • Familial hypercholesterolemia; • Low-density lipoprotein receptor; • LDLR-negative mutation. Introduction Aortic valve calcification (AoVC) has an estimated prevalence of more than 50% in the elderly (> 75 years), and is associated with an elevated risk of coronary (72%) and cardiovascular events (50%) (1,2). In addition, the degree of AoVC correlateswith stenosis severity, disease progression and the development of coronary and cardiovascular events (3-5). In the general population AoVC is associated with age, male gender, smoking, hypertension, diabetes, obesity and hypercholesterolemia (6,7). Patients with familial hypercholesterolemia (FH) have extremely high levels of low-density lipoprotein cholesterol (LDL-C) and may be at high risk of developing AoVC. FH is an autosomal inherited disorder caused by mutations in the LDL receptor (LDLR) gene, the apolipoprotein B (APOB) gene, or the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene (8). LDLR mutations can be classified as mutations with residual LDLR function (LDLR-defective mutations) or without LDLR function (LDLR-negative mutations) (9). In patients who are homozygous for FH, the prevalence of AoVC reaches 100% and surgical intervention of functional valvular disease is often needed (10,11). Compared to homozygous FH, heterozygous FH (he-FH) is associated with less aortic valve dysfunction on echocardiography (12-15). However, the prevalence of AoVC in he-FH is unknown. The purpose of this single-centre study was to determine the prevalence and extent of AoVC in asymptomatic statin-treated patients, heterozygous for FH. In addition, we evaluated which variables were associated with the presence and extent of AoVC. In the molecular context of the patients, we compared AoVC between he-FH patients with and without LDLR-negative mutations.