Imagenetics for Precision Medicine in Dilated Cardiomyopathy.

IF 6 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Circulation: Genomic and Precision Medicine Pub Date : 2024-04-01 Epub Date: 2024-02-28 DOI:10.1161/CIRCGEN.123.004301
Alexios S Antonopoulos, Anastasia Xintarakou, Alexandros Protonotarios, George Lazaros, Antigoni Miliou, Konstantinos Tsioufis, Charalambos Vlachopoulos
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Abstract

Dilated cardiomyopathy (DCM) is a common heart muscle disorder of nonischemic etiology associated with heart failure development and the risk of malignant ventricular arrhythmias and sudden cardiac death. A tailored approach to risk stratification and prevention of sudden cardiac death is required in genetic DCM given its variable presentation and phenotypic severity. Currently, advances in cardiogenetics have shed light on disease mechanisms, the complex genetic architecture of DCM, polygenic contributors to disease susceptibility and the role of environmental triggers. Parallel advances in imaging have also enhanced disease recognition and the identification of the wide spectrum of phenotypes falling under the DCM umbrella. Genotype-phenotype associations have been also established for specific subtypes of DCM, such as DSP (desmoplakin) or FLNC (filamin-C) cardiomyopathy but overall, they remain elusive and not readily identifiable. Also, despite the accumulated knowledge on disease mechanisms, certain aspects remain still unclear, such as which patients with DCM are at risk for disease progression or remission after treatment. Imagenetics, that is, the combination of imaging and genetics, is expected to further advance research in the field and contribute to precision medicine in DCM management and treatment. In the present article, we review the existing literature in the field, summarize the established knowledge and emerging data on the value of genetics and imaging in establishing genotype-phenotype associations in DCM and in clinical decision making for DCM patients.

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Imagenetics for Precision Medicine in Dilated Cardiomyopathy.
扩张型心肌病(DCM)是一种常见的非缺血性心肌疾病,与心力衰竭、恶性室性心律失常和心脏性猝死的风险有关。由于遗传性 DCM 的表现形式和表型严重程度各不相同,因此需要采取有针对性的方法对其进行风险分层并预防心脏性猝死。目前,心脏遗传学的进步揭示了疾病机制、DCM 复杂的遗传结构、疾病易感性的多基因因素以及环境诱因的作用。同时,成像技术的进步也提高了对疾病的识别能力,以及对属于 DCM 范畴的各种表型的鉴定能力。针对 DCM 的特定亚型,如 DSP(去髓鞘蛋白)或 FLNC(丝胶蛋白-C)心肌病,也建立了基因型与表型之间的关联,但总体而言,这些关联仍难以捉摸,不易识别。此外,尽管有关疾病机制的知识不断积累,但某些方面仍不清楚,如哪些 DCM 患者在治疗后面临疾病进展或缓解的风险。影像遗传学,即影像学与遗传学的结合,有望进一步推动该领域的研究,并为 DCM 管理和治疗中的精准医疗做出贡献。在本文中,我们回顾了该领域的现有文献,总结了遗传学和影像学在建立 DCM 基因型-表型关联和 DCM 患者临床决策中的价值方面的既有知识和新兴数据。
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来源期刊
Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
9.20
自引率
5.40%
发文量
144
期刊介绍: Circulation: Genomic and Precision Medicine is a distinguished journal dedicated to advancing the frontiers of cardiovascular genomics and precision medicine. It publishes a diverse array of original research articles that delve into the genetic and molecular underpinnings of cardiovascular diseases. The journal's scope is broad, encompassing studies from human subjects to laboratory models, and from in vitro experiments to computational simulations. Circulation: Genomic and Precision Medicine is committed to publishing studies that have direct relevance to human cardiovascular biology and disease, with the ultimate goal of improving patient care and outcomes. The journal serves as a platform for researchers to share their groundbreaking work, fostering collaboration and innovation in the field of cardiovascular genomics and precision medicine.
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