Cardiogenetics: a primer for the clinical cardiologist
Cardiogenetics: a primer for the clinical cardiologist
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DOI：
10.1136/heartjnl-2019-316241
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发表时间：
2020-06-01
期刊：
影响因子：
5.7
通讯作者：
Hisama, Fuki M.
中科院分区：
文献类型：
--
作者：
Otto, Catherine M.;Savla, Jainy J.;Hisama, Fuki M.
在过去的十年中，人们越来越多地认识到许多类型的心血管疾病的遗传原因，这对根据特定遗传条件进行患者管理具有重要意义。虽然动脉粥样硬化性心血管疾病的多基因相关性早已为人们所知，但导致独特心血管表型的许多遗传性单基因变异只是最近才被认识到。以前，很难进行基因诊断，因为测试很昂贵，而且很少可用。大规模并行DNA测序和大批量商业实验室的当前时代已经导致基因组甚至外显子组和基因组测序更广泛地用于心血管遗传学。数十到数百个感兴趣的基因可以以更低的成本进行测序，比十年前快得多，使临床测试比以往任何时候都更容易获得。许多心脏病学实践指南现在将遗传数据纳入诊断和个性化临床管理的建议中。因此，临床心脏病专家需要了解心血管遗传学的基本原理，认识到哪些患者可能有潜在的遗传疾病，并在适当的时候将患者转诊进行基因检测。患有遗传性心血管疾病的患者和家庭也希望他们的医生参与有关临床管理的知情共享决策。在这篇综述文章中，我们总结了医学遗传学的基本原理，并提供了一个实用的方法，临床基因检测重点放在三个类别的心血管疾病：心脏病，心肌病和心律失常。
Over the past decade, there has been increased recognition of genetic causes for many types of cardiovascular disease, with significant implications for patient management depending on the specific genetic condition. Although polygenetic associations with atherosclerotic cardiovascular disease have long been known, a number of inherited single-gene variants resulting in unique cardiovascular phenotypes has been recognised only more recently. Previously, it was difficult to make a genetic diagnosis because testing was expensive and rarely available. The current era of massively parallel DNA sequencing and large volume commercial labs has resulted in wider availability of gene panels and even exome and genome sequencing for use in cardiovascular genetics. Dozens to hundreds of genes of interest can be sequenced at lower cost, far more rapidly than a decade ago, making clinical testing more accessible than ever before. Many cardiology practice guidelines now incorporate genetic data in recommendations for diagnosis and personalised clinical management. Thus, clinical cardiologists need to understand the basic principles of cardiovascular genetics, recognise which patients might have an underlying genetic condition and refer patients for genetic testing when appropriate. Patients and families with inherited cardiovascular conditions also will expect their physicians to engage in informed shared decision making about clinical management. In this review article, we summarise basic principles of medical genetics and provide a practical approach to clinical genetic testing focusing on three categories of cardiovascular diseases: aortopathies, cardiomyopathies and arrhythmias.