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心力衰竭的遗传生物标志物:从基因面板到多基因风险评分。

Genetic Biomarkers in Heart Failure: From Gene Panels to Polygenic Risk Scores.

机构信息

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

出版信息

Curr Heart Fail Rep. 2024 Dec;21(6):554-569. doi: 10.1007/s11897-024-00687-5. Epub 2024 Oct 15.


DOI:10.1007/s11897-024-00687-5
PMID:39405019
Abstract

PURPOSE OF REVIEW: This review aims to provide a comprehensive overview of the current understanding of genetic markers associated with heart failure (HF) and its underlying causative diseases, such as cardiomyopathies. It highlights the relevance of genetic biomarkers in diagnosing HF, predicting prognosis, potentially identifying its preclinical stages and identifying targets to enable the implementation of individualized medicine approaches. RECENT FINDINGS: The prevalence of HF is increasing due to an aging population but with greater access to disease-modifying therapies. Advanced diagnostic tools such as cardiac magnetic resonance, nuclear imaging, and AI-enabled diagnostic testing are now being utilized to further characterize HF patients. Additionally, the importance of genetic testing in HF diagnosis and management is increasingly being recognized. Genetic biomarkers, including single nucleotide polymorphisms (SNPs) and rare genetic variants, are emerging as crucial tools for diagnosing HF substrates, determining prognosis and increasingly directing therapy. These genetic insights are key to optimizing HF management and delivering personalized treatment tailored to individual patients. HF is a complex syndrome affecting millions globally, characterized by high mortality and significant economic burden. Understanding the underlying etiologies of HF is essential for improving management and clinical outcomes. Recent advances highlight the use of multimodal assessments, including AI-enabled diagnostics and genetic testing, to better characterize and manage HF. Genetic biomarkers are particularly promising in identifying preclinical HF stages and providing personalized treatment options. The genetic contribution to HF is heterogeneous, with both monogenic and polygenic bases playing a role. These developments underscore the shift towards personalized medicine in HF management.

摘要

目的综述:本文旨在全面概述与心力衰竭(HF)及其潜在病因(如心肌病)相关的遗传标志物的最新研究进展。本文强调了遗传生物标志物在 HF 诊断、预测预后、潜在识别其临床前阶段以及确定治疗靶点以实施个体化医学方法中的相关性。

最近的发现:由于人口老龄化,HF 的患病率不断增加,但疾病修饰疗法的应用也更加广泛。先进的诊断工具,如心脏磁共振、核成像和人工智能辅助诊断测试,现在正被用于进一步对 HF 患者进行特征描述。此外,遗传检测在 HF 诊断和管理中的重要性也日益得到认可。遗传生物标志物,包括单核苷酸多态性(SNP)和罕见的遗传变异,正成为诊断 HF 底物、确定预后以及越来越多地指导治疗的重要工具。这些遗传见解是优化 HF 管理和提供针对个体患者的个体化治疗的关键。HF 是一种影响全球数百万人的复杂综合征,其死亡率高,经济负担重。了解 HF 的潜在病因对于改善管理和临床结局至关重要。最近的进展强调了使用多模态评估,包括人工智能辅助诊断和遗传检测,以更好地描述和管理 HF。遗传生物标志物在识别临床前 HF 阶段和提供个体化治疗方案方面特别有前景。HF 的遗传贡献具有异质性,单基因和多基因基础都发挥着作用。这些发展突显了 HF 管理向个体化医学的转变。

相似文献

[1]
Genetic Biomarkers in Heart Failure: From Gene Panels to Polygenic Risk Scores.

Curr Heart Fail Rep. 2024-12

[2]
Heart failure: advanced development in genetics and epigenetics.

Biomed Res Int. 2015

[3]
A novel polygenic risk score improves prognostic prediction of heart failure with preserved ejection fraction in the Chinese Han population.

Eur J Prev Cardiol. 2023-9-20

[4]
Genetic cardiomyopathies causing heart failure.

Circ Res. 2013-8-30

[5]
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure.

J Am Heart Assoc. 2021-11-16

[6]
Obesity-Related Genetic Determinants of Heart Failure Prognosis.

Cardiovasc Drugs Ther. 2019-8

[7]
Genetics of heart failure.

Biochim Biophys Acta. 2013-12

[8]
Genome-wide studies of heart failure and endophenotypes: lessons learned and future directions.

Cardiovasc Res. 2018-7-15

[9]
Artificial Intelligence and Its Role in Diagnosing Heart Failure: A Narrative Review.

Cureus. 2024-5-5

[10]
Multidimensional Approach of Heart Failure Diagnosis and Prognostication Utilizing Cardiac Imaging with Biomarkers.

Diagnostics (Basel). 2022-6-1

引用本文的文献

[1]
Exploring the Role of Genetic and Genomic Factors in Therapeutic Response to Heart Failure: A Comprehensive Analytical Review.

Genes (Basel). 2025-7-4

[2]
Cardiovascular Implications of Lipoprotein(a) and its Genetic Variants: A Critical Review From the Middle East.

JACC Asia. 2025-7

[3]
The Rise of Personalized Medicine in Heart Failure Management: A Narrative Review.

Cureus. 2025-5-8

[4]
Genetic Background in Patients with Cancer Therapy-Induced Cardiomyopathy.

J Clin Med. 2025-2-15

本文引用的文献

[1]
Arrhythmogenic right ventricular cardiomyopathy masquerading as peripartum cardiomyopathy.

HeartRhythm Case Rep. 2024-5-9

[2]
Cardiovascular Burden of the V142I Transthyretin Variant.

JAMA. 2024-6-4

[3]
Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy.

Nat Cardiovasc Res. 2023

[4]
Gene Therapy in Cardiology: Is a Cure for Hypertrophic Cardiomyopathy on the Horizon?

Can J Cardiol. 2024-5

[5]
2023 ESC Guidelines for the management of cardiomyopathies.

Eur Heart J. 2023-10-1

[6]
Regulating Direct-to-Consumer Polygenic Risk Scores.

JAMA. 2023-8-22

[7]
Cardiac Sarcoidosis Mimickers: Genetic Testing in Undifferentiated Inflammatory Cardiomyopathies.

Circ Genom Precis Med. 2023-10

[8]
Realistic expectations are key to realising the benefits of polygenic scores.

BMJ. 2023-2-28

[9]
Gene-environment interactions and their impact on human health.

Genes Immun. 2023-2

[10]
Genetic architecture of heart failure with preserved versus reduced ejection fraction.

Nat Commun. 2022-12-14

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