School of Cardiology, Department of Medical and Surgical Sciences, University of Foggia, 70122 Foggia, Italy.
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 70122 Foggia, Italy.
Int J Mol Sci. 2023 Oct 16;24(20):15221. doi: 10.3390/ijms242015221.
Over the last decades, the relevance of genetics in cardiovascular diseases has expanded, especially in the context of cardiomyopathies. Its relevance extends to the management of patients diagnosed with heart failure (HF), given its capacity to provide invaluable insights into the etiology of cardiomyopathies and identify individuals at a heightened risk of poor outcomes. Notably, the identification of an etiological genetic variant necessitates a comprehensive evaluation of the family lineage of the affected patients. In the future, these genetic variants hold potential as therapeutic targets with the capability to modify gene expression. In this complex setting, collaboration among cardiologists, specifically those specializing in cardiomyopathies and HF, and geneticists becomes paramount to improving individual and family health outcomes, as well as therapeutic clinical results. This review is intended to offer geneticists and cardiologists an updated perspective on the value of genetic research in HF and its implications in clinical practice.
在过去的几十年中，遗传学在心血管疾病中的相关性不断扩大，尤其是在心肌病方面。其相关性延伸到心力衰竭（HF）患者的管理中，因为它能够深入了解心肌病的病因，并识别出预后不良风险较高的个体。值得注意的是，确定病因遗传变异需要对受影响患者的家族病史进行全面评估。在未来，这些遗传变异有可能成为治疗靶点，从而改变基因表达。在这种复杂的情况下，心脏病专家，特别是专门研究心肌病和 HF 的心脏病专家与遗传学家之间的合作变得至关重要，这有助于改善个人和家庭的健康结果以及治疗临床结果。本综述旨在为遗传学家和心脏病专家提供有关 HF 中遗传研究价值及其在临床实践中的意义的最新观点。
