Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Curr Heart Fail Rep. 2024 Dec;21(6):554-569. doi: 10.1007/s11897-024-00687-5. Epub 2024 Oct 15.
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.
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.
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。
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。
