Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, New South Wales, Australia.
Faculty of Health and Medical Sciences, University of Sydney, New South Wales, Australia.
Clin Cardiol. 2020 Aug;43(8):915-920. doi: 10.1002/clc.23289. Epub 2020 Jan 11.
Athletes are some of the fittest members of our society, yet paradoxically carry an increased risk of sudden cardiac death (SCD). The athlete's underlying risk of SCD in sports may be increased due to a number of underlying structural, arrhythmic and inherited cardiac conditions (ICCs). There are also physiological adaptations, which occur in the cardiovascular system in athletes as a result of high-level athletic activity and may be misinterpreted as pathology. Differentiation of "athlete's heart" from heart disease may be challenging due to the effects of exercise on the electrical and structural cardiac remodeling. Features such as prolongation of the QT interval, left ventricular hypertrophy and cavity dilatation, create significant overlap between physiology and inherited channelopathies and cardiomyopathies. Most inherited cardiac conditions have an underlying genetic basis to disease and genetic testing in an athlete can have diagnostic, prognostic and therapeutic implications, including guiding exercise recommendations. Therefore, genetic testing can be a useful diagnostic tool when used carefully and appropriately by a trained cardio-genetics expert.
运动员是我们社会中身体最健康的人群之一,但他们却存在着更高的突发性心脏死亡(SCD)风险,这似乎有些矛盾。运动员在运动中发生 SCD 的潜在风险可能会由于一些潜在的结构性、心律失常性和遗传性心脏疾病(ICCs)而增加。此外,心血管系统也会发生生理性适应,这是由于高水平的体育活动导致的,可能会被误解为病理学改变。由于运动对心脏电和结构重塑的影响,区分“运动员心脏”和心脏病可能具有挑战性。QT 间期延长、左心室肥厚和腔室扩张等特征使得生理学和遗传性通道病及心肌病之间存在显著重叠。大多数遗传性心脏疾病都有潜在的遗传基础,对运动员进行基因检测具有诊断、预后和治疗意义,包括指导运动建议。因此,基因检测可以成为一种有用的诊断工具,前提是由经过培训的心脏遗传专家谨慎且适当地使用。