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纯合子家族性高胆固醇血症中的主动脉瓣上狭窄：当代治疗方法

Supravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management.

作者信息

Eisenberg Scott, Gold Daniel, Mehta Puja K, Leshnower Bradley, Sperling Laurence S

机构信息

Emory University School of Medicine, Atlanta, Georgia, USA.

Emory Clinical Cardiovascular Research Institute, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia, USA.

出版信息

JACC Case Rep. 2024 Apr 17;29(10):102342. doi: 10.1016/j.jaccas.2024.102342. eCollection 2024 May 15.

DOI:10.1016/j.jaccas.2024.102342
PMID:38682003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11047779/
Abstract

We report a case of a patient diagnosed with homozygous familial hypercholesterolemia and progressive supravalvular aortic stenosis. Treatment with long-term low-density lipoprotein apheresis and management with novel lipid-lowering agents including an angiopoetin-like protein inhibitor led to significant low-density lipoprotein reduction. The case highlights the challenges in managing the manifestations of homozygous familial hypercholesterolemia.

摘要

我们报告了一例被诊断为纯合子家族性高胆固醇血症和进行性主动脉瓣上狭窄的患者。长期低密度脂蛋白单采治疗以及使用包括血管生成素样蛋白抑制剂在内的新型降脂药物进行管理，使低密度脂蛋白显著降低。该病例凸显了管理纯合子家族性高胆固醇血症表现方面的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/36c992258858/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/1779504977f8/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/fcb440620261/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/50b7fa90083d/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/95722a857381/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/6ab6bb48d7f6/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/36c992258858/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/1779504977f8/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/fcb440620261/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/50b7fa90083d/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/95722a857381/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/6ab6bb48d7f6/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ee7/11047779/36c992258858/gr5.jpg

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本文引用的文献

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2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.2023 年更新的欧洲动脉粥样硬化学会关于纯合子家族性高胆固醇血症共识声明：新的治疗方法和临床指导。
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Current Treatment Options in Homozygous Familial Hypercholesterolemia.纯合子家族性高胆固醇血症的当前治疗选择
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家族性高胆固醇血症纯合子患者的主动脉瓣狭窄：一个多世纪以来的范式转变。
Eur Heart J. 2022 Sep 7;43(34):3227-3239. doi: 10.1093/eurheartj/ehac339.
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Ann Thorac Surg. 2019 Oct;108(4):1202-1209. doi: 10.1016/j.athoracsur.2019.04.094. Epub 2019 Jun 20.
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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.家族性高胆固醇血症的临床基因检测：美国心脏病学会科学专家组。
J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044.
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Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia.两例家族性高胆固醇血症患者的主动脉瓣上狭窄的手术治疗。
Ann Thorac Surg. 2018 Apr;105(4):e171-e174. doi: 10.1016/j.athoracsur.2017.11.025.
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