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肌节基因变异及其在冠状动脉疾病背景下左心室功能障碍中的作用。

Sarcomeric Gene Variants and Their Role with Left Ventricular Dysfunction in Background of Coronary Artery Disease.

机构信息

Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India.

Department of Biotechnology, Yeungnam University, Gyeongsan, Gyeongbuk 38541, Korea.

出版信息

Biomolecules. 2020 Mar 12;10(3):442. doi: 10.3390/biom10030442.

DOI:10.3390/biom10030442
PMID:32178433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7175236/
Abstract

: Cardiovascular diseases are one of the leading causes of death in developing countries, generally originating as coronary artery disease (CAD) or hypertension. In later stages, many CAD patients develop left ventricle dysfunction (LVD). Left ventricular ejection fraction (LVEF) is the most prevalent prognostic factor in CAD patients. LVD is a complex multifactorial condition in which the left ventricle of the heart becomes functionally impaired. Various genetic studies have correlated LVD with dilated cardiomyopathy (DCM). In recent years, enormous progress has been made in identifying the genetic causes of cardiac diseases, which has further led to a greater understanding of molecular mechanisms underlying each disease. This progress has increased the probability of establishing a specific genetic diagnosis, and thus providing new opportunities for practitioners, patients, and families to utilize this genetic information. A large number of mutations in sarcomeric genes have been discovered in cardiomyopathies. In this review, we will explore the role of the sarcomeric genes in LVD in CAD patients, which is a major cause of cardiac failure and results in heart failure.

摘要

心血管疾病是发展中国家的主要死亡原因之一,通常起源于冠状动脉疾病 (CAD) 或高血压。在后期,许多 CAD 患者会出现左心室功能障碍 (LVD)。左心室射血分数 (LVEF) 是 CAD 患者最常见的预后因素。LVD 是一种复杂的多因素疾病,其中心脏的左心室功能受损。许多基因研究将 LVD 与扩张型心肌病 (DCM) 相关联。近年来,在确定心脏疾病的遗传原因方面取得了巨大进展,这进一步加深了对每种疾病潜在分子机制的理解。这一进展增加了建立特定遗传诊断的可能性,从而为从业者、患者和家庭利用这些遗传信息提供了新的机会。在心肌病中已经发现了大量肌节基因的突变。在这篇综述中,我们将探讨肌节基因在 CAD 患者 LVD 中的作用,这是心力衰竭的主要原因,也是心力衰竭的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5a7/7175236/89fb1fd61e7c/biomolecules-10-00442-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5a7/7175236/c393f7d40a8b/biomolecules-10-00442-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5a7/7175236/89fb1fd61e7c/biomolecules-10-00442-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5a7/7175236/c393f7d40a8b/biomolecules-10-00442-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5a7/7175236/89fb1fd61e7c/biomolecules-10-00442-g002.jpg

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