首页> 美国卫生研究院文献>Frontiers in Cardiovascular Medicine >The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death
【2h】

The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death

机译:基因测试在识别患有运动猝死风险的遗传性原发性心脏疾病的年轻运动员中的作用

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

Although relatively rare, inherited primitive cardiac disorders (IPCDs) in athletes have a deep social impact since they often present as sudden cardiac death (SCD) of young and otherwise healthy persons. The diagnosis of these conditions is likely underestimated due to the lack of shared clinical criteria and to the existence of several borderline clinical pictures. We will focus on the clinical and molecular diagnosis of the most common IPCDs, namely hypertrophic cardiomyopathies, long QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and left ventricular non-compaction. Collectively, these conditions account for the majority of SCD episodes and/or cardiologic clinical problems in athletes. In addition to the clinical and instrumental tools for the diagnosis of IPCD, the viral technological advances in genetic testing have facilitated the molecular confirmation of these conditions. However, genetic testing presents several issues: the limited sensitivity (globally, around 50%), the low prognostic predictive value, the probability to find pathogenic variants in different genes in the same patient, and the risk of non-interpretable results. In this review, we will analyze the pros and cons of the different clinical approaches for the presymptomatic identification, the diagnosis and management of IPCD athletes, and we will discuss the indications to the genetic testing for patients and their relatives, particularly focusing on the most complex scenarios, such as presymptomatic tests, uncertain results, and unexpected findings.
机译:尽管相对罕见,但运动员中的遗传性原发性心脏疾病(IPCD)具有深远的社会影响,因为它们通常表现为年轻人和其他健康人的心源性猝死(SCD)。这些疾病的诊断可能由于缺乏共同的临床标准以及存在一些临界临床图像而被低估了。我们将专注于最常见的IPCD的临床和分子诊断,即肥厚型心肌病,长QT综合征,致心律失常性右室心肌病和左室非致密性。总的来说,这些情况占运动员SCD发作和/或心脏病临床问题的大部分。除了用于诊断IPCD的临床和仪器工具外,基因检测中的病毒技术进步也促进了对这些疾病的分子确认。然而,基因检测存在几个问题:敏感性有限(全球范围内约为50%),预后预测价值低,在同一患者中发现不同基因的致病变异的可能性以及无法解释的结果的风险。在本文中,我们将分析不同临床方法在症状诊断前,IPCD运动员的诊断和管理方面的利弊,并将讨论对患者及其亲属进行基因检测的适应症,尤其是针对复杂的情况,例如症状前测试,不确定的结果和意外的发现。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号