扩张型心肌病的精准治疗:白日梦还是范式转变?

Cambridge prisms, Precision medicine Pub Date : 2023-11-20 eCollection Date: 2023-01-01 DOI:10.1017/pcm.2023.24
Saad Javed, Brian P Halliday
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引用次数: 0

摘要

心肌病精准医疗有望改善患者的预后成本,方法是将重点转移到针对患者的治疗决策上,最大限度地利用最有可能带来益处的疗法,并尽量减少不必要的干预。以左心室扩张和损伤为特征的扩张型心肌病(DCM)是全球心力衰竭的主要原因。基因组医学的进步加深了我们对 DCM 遗传结构的了解。了解基因变异的功能影响,揭示基因型特异性疾病机制,是目前研究的热点,先进的心脏成像和突变组学方法发挥了重要作用。这可能会导致越来越多地使用新型靶向疗法。然而,常见基因变异和后天环境因素的修饰作用使个体化治疗和风险分层变得更加复杂,这有助于解释罕见基因变异和难以捉摸的基因疾病的不同表现形式。下一个前沿领域必须是将工作扩展到早期疾病,以了解疾病表达的驱动机制,从而将重点放在疾病预防上,而不是后期无症状疾病的管理上。克服这些挑战是实现护理模式从症状性心衰管理向疾病预防转变的关键。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Precision therapy in dilated cardiomyopathy: Pipedream or paradigm shift?

Precision medicine for cardiomyopathies holds great promise to improve patient outcomes costs by shifting the focus to patient-specific treatment decisions, maximising the use of therapies most likely to lead to benefit and minimising unnecessary intervention. Dilated cardiomyopathy (DCM), characterised by left ventricular dilatation and impairment, is a major cause of heart failure globally. Advances in genomic medicine have increased our understanding of the genetic architecture of DCM. Understanding the functional implications of genetic variation to reveal genotype-specific disease mechanisms is the subject of intense investigation, with advanced cardiac imaging and mutliomics approaches playing important roles. This may lead to increasing use of novel, targeted therapy. Individualised treatment and risk stratification is however made more complex by the modifying effects of common genetic variation and acquired environmental factors that help explain the variable expressivity of rare genetic variants and gene elusive disease. The next frontier must be expanding work into early disease to understand the mechanisms that drive disease expression, so that the focus can be placed on disease prevention rather than management of later symptomatic disease. Overcoming these challenges holds the key to enabling a paradigm shift in care from the management of symptomatic heart failure to prevention of disease.

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