Arnautu Diana-Aurora, Cozma Dragos, Lala Ioan-Radu, Arnautu Sergiu-Florin, Tomescu Mirela-Cleopatra, Andor Minodora
Multidisciplinary Heart Research Center, Victor Babes University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Department of Internal Medicine I, Victor Babes University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Biomedicines. 2024 Jul 24;12(8):1643. doi: 10.3390/biomedicines12081643.
Considering the worldwide impact of heart failure, it is crucial to develop approaches that can help us comprehend its root cause and make accurate predictions about its outcome. This is essential for lowering the suffering and death rates connected with this widespread illness. Cardiomyopathies frequently result from genetic factors, and the study of heart failure genetics is advancing quickly. Dilated cardiomyopathy (DCM) is the most prevalent kind of cardiomyopathy, encompassing both genetic and nongenetic abnormalities. It is distinguished by the enlargement of the left ventricle or both ventricles, accompanied by reduced contractility. The discovery of the molecular origins and subsequent awareness of the molecular mechanism is broadening our knowledge of DCM development. Additionally, it emphasizes the complicated nature of DCM and the necessity to formulate several different strategies to address the diverse underlying factors contributing to this disease. Genetic variants that can be transmitted from one generation to another can be a significant contributor to causing family or sporadic hereditary DCM. Genetic variants also play a significant role in determining susceptibility for acquired triggers for DCM. The genetic causes of DCM can have a large range of phenotypic expressions. It is crucial to select patients who are most probable to gain advantages from genetic testing. The purpose of this research is to emphasize the significance of identifying genetic DCM, the relationships between genotype and phenotype, risk assessment, and personalized therapy for both those affected and their relatives. This approach is expected to gain importance once treatment is guided by genotype-specific advice and disease-modifying medications.
考虑到心力衰竭对全球的影响,开发有助于我们理解其根本原因并对其结果做出准确预测的方法至关重要。这对于降低与这种广泛疾病相关的痛苦和死亡率至关重要。心肌病通常由遗传因素引起,心力衰竭遗传学的研究正在迅速发展。扩张型心肌病(DCM)是最常见的心肌病类型,包括遗传和非遗传异常。其特征是左心室或双心室扩大,同时收缩力降低。分子起源的发现以及随后对分子机制的认识正在拓宽我们对DCM发展的了解。此外,它强调了DCM的复杂性以及制定多种不同策略以应对导致该疾病的各种潜在因素的必要性。可代代相传的基因变异可能是导致家族性或散发性遗传性DCM的重要因素。基因变异在决定DCM后天触发因素的易感性方面也起着重要作用。DCM的遗传原因可表现出广泛的表型。选择最有可能从基因检测中获益的患者至关重要。本研究的目的是强调识别遗传性DCM、基因型与表型之间的关系、风险评估以及为患者及其亲属提供个性化治疗的重要性。一旦治疗由基因型特异性建议和疾病修饰药物指导,这种方法预计将变得更加重要。