Inherited cardiomyopathies are cardiovascular disorders that are one of the leading causes of death and are strongly associated with genetic mutations. These include hypertrophic, dilated, restrictive, as well as arrhythmogenic right ventricular cardiomyopathies. Among the patients presenting with these specific forms of cardiomyopathies, there is significant phenotypic, genotypic, and environmental heterogeneity. Over the years, the identification of the underlying mutations common to specific forms of cardiomyopathies have facilitated clinic diagnosis. However, the variation between patient genetics and phenotypes highlights the need for improved understanding of these diseases and the development of innovative treatments. To better understand the diseases, researchers are capitalizing on two innovative technologies: cardiac reprogramming and gene editing using CRISPR-Cas9. Deriving cardiomyocytes from patient blood samples and gene editing allows for the efficient generation of cellular and animal models that allow researchers to model the disease more accurately. In addition, the recent advances in high throughput drug screening allows for the efficient testing of patient-derived cardiomyocytes for patient-specific susceptibility to various drugs that are currently approved. In addition, this technology can facilitate the development of new pharmacological compounds for the treatment of specific cardiomyopathies. Overall, the recent technological advances in molecular medicine now presents an opportunity to gain unprecedented insight into solving the complex issue of inherited cardiomyopathies. These techniques pave the way for the new generation of personalized medicine in treating cardiovascular diseases.

中文翻译：

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注意差距：心肌病的基因变异和个性化治疗

遗传性心肌病是心血管疾病，是导致死亡的主要原因之一，与基因突变密切相关。这些包括肥厚性、扩张性、限制性和致心律失常性右心室心肌病。在出现这些特定形式的心肌病的患者中，存在显着的表型、基因型和环境异质性。多年来，对特定形式的心肌病常见的潜在突变的鉴定促进了临床诊断。然而，患者遗传学和表型之间的差异凸显了提高对这些疾病的理解和开发创新治疗方法的必要性。为了更好地了解这些疾病，研究人员正在利用两项创新技术：使用 CRISPR-Cas9 进行心脏重编程和基因编辑。从患者血液样本中提取心肌细胞并进行基因编辑可以有效生成细胞和动物模型，从而使研究人员能够更准确地对疾病进行建模。此外，高通量药物筛选的最新进展允许有效测试患者来源的心肌细胞对当前批准的各种药物的患者特异性敏感性。此外，该技术可以促进用于治疗特定心肌病的新药理化合物的开发。总体而言，分子医学的最新技术进步为解决遗传性心肌病的复杂问题提供了前所未有的洞察力。