Linking Clinical Parameters and Genotype in Dilated Cardiomyopathy.
Linking Clinical Parameters and Genotype in Dilated Cardiomyopathy.
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将扩张型心肌病的临床参数和基因型联系起来。
DOI：
10.1161/circheartfailure.118.005459
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发表时间：
2018
期刊：
影响因子：
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通讯作者：
Churko,JaredM
中科院分区：
文献类型：
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作者：
Churko,JaredM
循环心脏衰竭。2018; 11：e005459. DOI：10.1161/电路故障。118.005459 2018年11月2结构域扰动，11 mRNA剪接的变化，12和蛋白质功能变化13有助于疾病的发病机制。这些信息对于确定导致DCM的分子机制和设计靶向药物治疗以治疗DCM病理学的不同遗传亚类至关重要。扩张型心肌病/动力减退型非扩张型心肌病的遗传基础也具有重要的临床意义。收到遗传结果是一个提醒，除了在诊所接受治疗的个人之外，还要考虑病人的家庭。14.如果对心肌病的发生原因没有明确的解释，应获得详细的家族史，并筛查一级亲属以评估家族性疾病。15尽管DCM的遗传原因是多样的且未完全解决，并且临床基因检测的产量目前相对适中（可以在大约20%的时间内检测到遗传原因），15，16识别患者中的致病性突变提供了独特且有价值的信息，以指导患者及其家人的管理。可以明确识别和适当跟踪Atrisk亲属。没有风险的亲属可以放心。受影响的个体可以得到更精确的预后预测，并且可以基于遗传底物将更积极的治疗转向那些预测患有更具侵袭性疾病的人。Verdonschot等人1的工作强调，除了临床参数外，添加遗传信息可能比单独的临床参数更好地预测LV的逆重构。将疾病负担的程度与变异联系起来（并适当定义意义未知的变异）仍然是必要的。将疾病负担与变异联系起来的努力最终将改善患者护理和我们对心肌病的理解。
Circ Heart Fail. 2018; 11: e005459. DOI: 10.1161/CIRCHEARTFAILURE. 118.005459 November 2018 2 domain perturbations, 11 changes in mRNA splicing, 12 and protein functional changes13 contribute to in disease pathogenesis. This information will be critical to identify molecular mechanisms leading to DCM and to design targeted drug therapies to treat distinct genetic subclasses of DCM pathology. The genetic basis of DCM/hypokinetic non-DCM also has important clinical implications. Receipt of genetic results is a reminder to think about the patient’s family in addition to the individual presenting for care in clinic. 14 If there is no clear explanation for why cardiomyopathy developed, a detailed family history should be obtained, and first-degree relatives should be screened to evaluate for familial disease. 15 Although the genetic cause of DCM is diverse and incompletely resolved and the yield of clinical genetic testing is currently relatively modest (a genetic cause can be detected≈ 20% of the time), 15, 16 identifying a pathogenic mutation in a patient provides unique and valuable information to guide management of the patient and their family. Atrisk relatives can be definitively identified and followed appropriately. Relatives not at risk can be reassured. Affected individuals can be given more precise prognostic forecasts, and more aggressive therapy can be steered towards those predicted to have more aggressive disease, based on genetic substrate. The work of Verdonschot et al1 highlight that adding genetic information, in addition to clinical parameters, may better predict reverse remodeling of the LV than clinical parameters alone. Linking the degree of disease burden to variants (and properly defining variants of unknown significance) is still necessary. Efforts in linking disease burden to variants will ultimately lead to improvements in patient care and in our understanding of cardiomyopathies.