Xintarakou Anastasia, Kariki Ourania, Doundoulakis Ioannis, Arsenos Petros, Soulaidopoulos Stergios, Laina Aggeliki, Xydis Panagiotis, Kordalis Athanasios, Nakas Nikolaos, Theofilou Alexia, Vlachopoulos Charalampos, Tsioufis Konstantinos, Gatzoulis Konstantinos A
First Cardiology Department, National and Kapodistrian University of Athens, Hippokration General Hospital, 11527 Athens, Greece.
Department of Cardiology, Onassis Cardiac Surgery Center, Athens, 17674 Kallithea, Greece.
Rev Cardiovasc Med. 2022 Sep 9;23(9):305. doi: 10.31083/j.rcm2309305. eCollection 2022 Sep.
Dilated cardiomyopathy (DCM) is a heart disorder of diverse etiologies that affects millions of people worldwide, associated with increased mortality rate and high risk of sudden cardiac death. Patients with DCM are characterized by a wide range of clinical and pre-clinical phenotypes which are related with different outcomes. Dominant studies have failed to demonstrate the value of the left ventricular ejection fraction as the only indicator for patients' assessment and arrhythmic events prediction, thus making sudden cardiac death (SCD) risk stratification strategy improvement, more crucial than ever. The multifactorial two-step approach, examining non-invasive and invasive risk factors, represents an alternative process that enhances the accurate diagnosis and the individualization of patients' management. The role of genetic testing, regarding diagnosis and decision making, is of great importance, as pathogenic variants have been detected in several patients either they had a disease relative family history or not. At the same time there are specific genes mutations that have been associated with the prognosis of the disease. The aim of this review is to summarize the latest data regarding the genetic substrate of DCM and the value of genetic testing in patients' assessment and arrhythmic risk evaluation. Undoubtedly, the appropriate application of genetic testing and the thoughtful analysis of the results will contribute to the identification of patients who will receive major benefit from an implantable defibrillator as preventive treatment of SCD.
扩张型心肌病（DCM）是一种病因多样的心脏疾病，影响着全球数百万人，与死亡率增加和心脏性猝死风险高相关。DCM患者具有广泛的临床和临床前表型，这些表型与不同的预后相关。主流研究未能证明左心室射血分数作为患者评估和心律失常事件预测的唯一指标的价值，因此改善心脏性猝死（SCD）风险分层策略比以往任何时候都更加关键。多因素两步法，检查非侵入性和侵入性风险因素，是一种替代方法，可提高准确诊断和患者管理的个体化。基因检测在诊断和决策方面的作用非常重要，因为在一些患者中已检测到致病变异，无论他们是否有疾病相关家族史。同时，有特定的基因突变与该疾病的预后相关。本综述的目的是总结关于DCM基因基础以及基因检测在患者评估和心律失常风险评估中的价值的最新数据。毫无疑问，基因检测的适当应用和对结果的深入分析将有助于识别那些将从植入式除颤器作为SCD预防性治疗中获得最大益处的患者。
