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家族性高胆固醇血症、主动脉瓣上狭窄和广泛性动脉粥样硬化。

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis.

作者信息

Prajapati Rajpal, Agrawal Vikas

机构信息

Department of Cardiology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

Department of Cardiology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

出版信息

Indian Heart J. 2018 Jul-Aug;70(4):575-577. doi: 10.1016/j.ihj.2018.01.006. Epub 2018 Jan 8.

DOI:10.1016/j.ihj.2018.01.006
PMID:30170656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6116717/
Abstract

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with familial hypercolesterolemia.

摘要

家族性高胆固醇血症是一种常染色体显性疾病，由低密度脂蛋白受体基因的各种突变引起。这可导致早发性冠状动脉粥样硬化和心脏相关死亡。该疾病纯合子类型的症状更为严重。导致主动脉根部异常并引起主动脉瓣上狭窄的早发性恶性动脉粥样硬化很少见。我们的病例展示了患有严重高LDL水平的家族性高胆固醇血症患者表型的诊断影像学表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a64/6116717/9893f842ba88/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a64/6116717/9893f842ba88/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a64/6116717/9893f842ba88/gr1.jpg

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