Trenkwalder T, Kessler T, Schunkert H
Deutsches Herzzentrum München, Klinik für Herz- und Kreislauferkrankungen, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.
Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK) e. V., Munich Heart Alliance, München, Deutschland.
Herz. 2017 Aug;42(5):440-448. doi: 10.1007/s00059-017-4576-z.
Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. In case of rare monogenic diseases, diagnostics, risk stratification, and, in some cases, treatment decisions have become easier. For common, polygenic cardiovascular diseases, the situation is more complex due to interaction of modifiable external risk factors and nonmodifiable factors like genetic predisposition. Over the last few years, it has been shown that multiple genes are involved in the pathophysiology of these cardiovascular diseases rather than one single gene. In the following article, we give an overview of the genetic risk factors in polygenic cardiovascular diseases as atrial fibrillation, arterial hypertension and coronary artery disease. Furthermore, we aim to illustrate in which cases genetic testing is recommended in these diseases.
基因检测在心血管医学中发挥着越来越重要的作用。技术的进步以及新型且更具性价比（高通量）方法的发展，使得在研究和临床实践中能够识别出遗传风险因素。此外，这一进展简化了对患者和高危个体的筛查。对于罕见的单基因疾病，诊断、风险分层以及在某些情况下的治疗决策都变得更加容易。对于常见的多基因心血管疾病，由于可改变的外部风险因素与诸如遗传易感性等不可改变因素之间的相互作用，情况更为复杂。在过去几年中，已经表明这些心血管疾病的病理生理学涉及多个基因而非单个基因。在接下来的文章中，我们将概述多基因心血管疾病（如心房颤动、动脉高血压和冠状动脉疾病）中的遗传风险因素。此外，我们旨在说明在这些疾病中推荐进行基因检测的情况。
