Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia.

• 影响指数: 3.133
• 发表时间: 04 2021 15
• 来源期刊: Am J Cardiol
• DOI: 10.1016/j.amjcard.2020.12.080
• PMID: 33454344
• 文章类型: Journal Article
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Zhang R,Xie J,Zhou J,Xu L,Pan Y,Qu Y,Li R,Chong M,Song L,Wen W,Wu Y,Li J,Wang L,Yang Y

Mesh: Adolescent; Adult; Aortic Stenosis, Supravalvular / diagnostic imaging epidemiology physiopathology; Apolipoprotein B-100 / genetics; Arcus Senilis / epidemiology; Carotid Stenosis / diagnostic imaging epidemiology; Case-Control Studies; Cause of Death; Child; Child, Preschool; Echocardiography; Female; Follow-Up Studies; Homozygote; Humans; Hyperlipoproteinemia Type II / drug therapy epidemiology genetics physiopathology; Hypolipidemic Agents / therapeutic use; Infant; Male; Mortality, Premature; Multivariate Analysis; Proportional Hazards Models; Proprotein Convertase 9 / genetics; Receptors, LDL / genetics; Risk; Risk Factors; Xanthomatosis / epidemiology; Young Adult

Abstract

Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. The relation between SVAS and the risk of premature death in patients with HoFH has not been fully investigated. The present study analysis included 97 HoFH patients with mean age of 14.7 (years) from the Genetic and Imaging of Familial Hypercholesterolemia in Han Nationality Study. During the median (±SD) follow-up 4.0 (±4.0) years, 40 (41.2%) participants had SVAS and 17 (17.5%) participants experienced death. The proportion of premature death in the non-SVAS and SVAS group was 7.0% and 32.5%, respectively. Compared with the non-SVAS group, SVAS group cumulative survival was lower in the HoFH (log-rank test, p <0.001). This result was further confirmed in the multivariable Cox regression models. After adjusting for age, sex, low density lipoprotein cholesterol (LDL_C)-year-score, lipid-lowering drugs, cardiovascular disease, and carotid artery plaque, SVAS was an independent risk factor of premature death in HoFH on the multivariate analysis (hazard ratio 4.45; 95% confidence interval, 1.10 to 18.12; p = 0.037). In conclusion, a significantly increased risk of premature death was observed in HoFH patients with SVAS. Our study emphasized the importance of careful and aggressive management in these patients when appropriate.