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本文引用的文献

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Echocardiographic screening for non-ischaemic stage B heart failure in the community.社区中非缺血性 B 期心力衰竭的超声心动图筛查。
Eur J Heart Fail. 2016 Nov;18(11):1331-1339. doi: 10.1002/ejhf.643.
2
Prognostic Implications of LV Strain Risk Score in Asymptomatic Patients With Hypertensive Heart Disease.LV 应变风险评分对无症状高血压性心脏病患者的预后意义。
JACC Cardiovasc Imaging. 2016 Aug;9(8):911-21. doi: 10.1016/j.jcmg.2015.09.027. Epub 2016 Jun 22.
3
Tissue Tracking Technology for Assessing Cardiac Mechanics: Principles, Normal Values, and Clinical Applications.组织追踪技术评估心脏力学:原理、正常值和临床应用。
JACC Cardiovasc Imaging. 2015 Dec;8(12):1444-1460. doi: 10.1016/j.jcmg.2015.11.001.
4
Rationale, Design, and Methodological Aspects of the BUDAPEST-GLOBAL Study (Burden of Atherosclerotic Plaques Study in Twins-Genetic Loci and the Burden of Atherosclerotic Lesions).布达佩斯全球研究(双胞胎动脉粥样硬化斑块负担研究——基因位点与动脉粥样硬化病变负担)的基本原理、设计及方法学方面
Clin Cardiol. 2015 Dec;38(12):699-707. doi: 10.1002/clc.22482. Epub 2015 Oct 23.
5
Fully Automated Versus Standard Tracking of Left Ventricular Ejection Fraction and Longitudinal Strain: The FAST-EFs Multicenter Study.全自动与标准左心室射血分数和纵向应变追踪比较:FAST-EFs 多中心研究。
J Am Coll Cardiol. 2015 Sep 29;66(13):1456-66. doi: 10.1016/j.jacc.2015.07.052.
6
Head-to-Head Comparison of Global Longitudinal Strain Measurements among Nine Different Vendors: The EACVI/ASE Inter-Vendor Comparison Study.九家不同供应商的全球纵向应变测量的头对头比较:EACVI/ASE 供应商间比较研究。
J Am Soc Echocardiogr. 2015 Oct;28(10):1171-1181, e2. doi: 10.1016/j.echo.2015.06.011. Epub 2015 Jul 23.
7
Genetic influence on left ventricular structure and function: a Korean twin and family study.遗传对左心室结构和功能的影响:一项韩国双胞胎及家族研究。
Twin Res Hum Genet. 2015 Jun;18(3):281-9. doi: 10.1017/thg.2015.18. Epub 2015 Apr 14.
8
Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging.成人经超声心动图进行心腔定量的建议:美国超声心动图学会和欧洲心血管影像学会的更新版
Eur Heart J Cardiovasc Imaging. 2015 Mar;16(3):233-70. doi: 10.1093/ehjci/jev014.
9
Left ventricular mechanical function: clinical correlates, heritability, and association with parental heart failure.左心室机械功能:临床关联、遗传度及与父母心力衰竭的关系。
Eur J Heart Fail. 2015 Jan;17(1):44-50. doi: 10.1002/ejhf.202. Epub 2014 Dec 1.
10
Reversibility of left ventricular mechanical dysfunction in patients with hypertensive heart disease.高血压性心脏病患者左心室机械功能障碍的可逆性
J Hypertens. 2014 Dec;32(12):2479-86; discussion 2486-7. doi: 10.1097/HJH.0000000000000340.

正常和高血压心脏中左心室功能的遗传决定模式。

Genetically determined pattern of left ventricular function in normal and hypertensive hearts.

机构信息

MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.

Central European University, Budapest, Hungary.

出版信息

J Clin Hypertens (Greenwich). 2018 May;20(5):949-958. doi: 10.1111/jch.13271. Epub 2018 May 9.

DOI:10.1111/jch.13271
PMID:29741807
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8031166/
Abstract

We sought to assess the inheritance of left ventricular (LV) function using speckle-tracking echocardiography and the impact of hypertension on modifying the genetically determined pattern of contraction in a population of twins. We recruited 92 Caucasian twin pairs, including 74 hypertensive (HTN) siblings. Beyond standard echocardiographic protocol, a speckle-tracking analysis was performed, including global longitudinal strain (GLS). Systolic function, as assessed by ejection fraction, showed moderate heritability (61%); however, GLS showed higher and dominant heritability (75%). Heterogeneity models revealed that there were no differences between the HTN and non-HTN subjects regarding the heritability of GLS. However, the heritability estimates of diastolic function parameters, including early diastolic strain rate, were low. LV systolic biomechanics is highly heritable. GLS shows dominant heritability, despite the presence of early-stage hypertensive heart disease. Early diastolic parameters are rather determined by environmental factors. These findings suggest the presence of a genetic framework that conserves systolic function despite the expression of diastolic dysfunction and may underlie the phenotypic progression towards heart failure with preserved ejection fraction.

摘要

我们试图使用斑点追踪超声心动图评估左心室(LV)功能的遗传性,以及高血压对双胞胎人群中收缩遗传模式的影响。我们招募了 92 对高加索双胞胎,其中包括 74 对高血压(HTN)兄弟姐妹。除了标准的超声心动图方案外,还进行了斑点追踪分析,包括整体纵向应变(GLS)。射血分数评估的收缩功能表现出中等的遗传性(61%);然而,GLS 表现出更高和显性的遗传性(75%)。异质性模型显示,HTN 和非-HTN 受试者之间的 GLS 遗传性没有差异。然而,包括早期舒张应变率在内的舒张功能参数的遗传度估计值较低。LV 收缩生物力学具有高度遗传性。尽管存在早期高血压性心脏病,GLS 仍表现出显性遗传性。早期舒张参数主要受环境因素决定。这些发现表明存在一个遗传框架,尽管存在舒张功能障碍,但仍能维持收缩功能,并可能是射血分数保留的心力衰竭表型进展的基础。