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一名患有纯合子家族性高胆固醇血症的9岁女孩的急性冠状动脉综合征

Acute Coronary Syndrome in a 9-Year-Old Girl With Homozygous Familial Hypercholesterolemia.

作者信息

Goel Mishita, Bhatia Snigdha, Arand Christina, Shafi Irfan, Ahluwalia Neha, Sassalos Peter, Al Ahmadi Mamdouh, Afonso Luis, Balakrishnan Preetha L

机构信息

Department of Cardiology, Detroit Medical Center/Wayne State University, Detroit, Michigan, USA.

Department of Pediatric Cardiology, Children's Hospital of Michigan, Detroit, Michigan, USA.

出版信息

JACC Case Rep. 2024 Aug 7;29(15):102417. doi: 10.1016/j.jaccas.2024.102417.

DOI:10.1016/j.jaccas.2024.102417
PMID:39157547
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11328737/
Abstract

Familial hypercholesterolemia (FH) is a prevalent and underrecognized disorder. A young girl with previously undiagnosed homozygous FH presented with acute coronary syndrome. Severe coronary ostial stenosis and severe supravalvular aortic stenosis from atheromatous plaque was discovered. This case highlights the importance of screening and timely diagnosis of FH.

摘要

家族性高胆固醇血症（FH）是一种常见但未得到充分认识的疾病。一名先前未被诊断出患有纯合子FH的年轻女孩出现了急性冠状动脉综合征。发现了由动脉粥样硬化斑块导致的严重冠状动脉开口狭窄和严重的主动脉瓣上狭窄。该病例凸显了FH筛查和及时诊断的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/48ee0cf63254/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/56b2261da524/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/9d2168eb8091/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/66ddfb5b5a18/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/d1d913db8230/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/b2f7e39ed5ff/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/48ee0cf63254/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/56b2261da524/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/9d2168eb8091/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/66ddfb5b5a18/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/d1d913db8230/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/b2f7e39ed5ff/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ee/11328737/48ee0cf63254/gr5.jpg

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本文引用的文献

1
Treatment of Homozygous Familial Hypercholesterolemia With ANGPTL3 Inhibitor, Evinacumab.用血管生成素样蛋白3（ANGPTL3）抑制剂依维那库单抗治疗纯合子家族性高胆固醇血症
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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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Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia.一名4岁男孩猝死：纯合子家族性高胆固醇血症中一种侵袭性低密度脂蛋白受体突变（W556R）导致冠状动脉近乎完全闭塞。
J Pediatr. 2011 Jan;158(1):167. doi: 10.1016/j.jpeds.2010.06.027. Epub 2010 Jul 24.