Division of Cardiology, Johns Hopkins University, 600 North Wolfe Street, Blalock 572, Baltimore, MD 21287, USA.
Division of Cardiology, Johns Hopkins University, 600 North Wolfe Street, Blalock 572, Baltimore, MD 21287, USA.
Card Electrophysiol Clin. 2023 Sep;15(3):241-247. doi: 10.1016/j.ccep.2023.05.005. Epub 2023 Jul 4.
Genetic testing has increasingly been shown to provide critical information regarding the treatment and management of patients with hereditary cardiomyopathies and arrhythmias and is available for a wide variety of conditions. It can provide information regarding arrhythmia risk, lifestyle recommendations, such as exercise avoidance, pharmaceutical therapies, and prognosis. Beyond the proband, genetic testing can be a valuable tool for cascade screening in the family. Genetic testing should be accompanied with genetic counseling, as genetic tests should be accompanied by expert interpretation, support in cascade family evaluation, and psychosocial considerations. Overall, it should be routinely implemented in arrhythmia and cardiomyopathy clinics.
基因检测越来越多地显示出可以为遗传性心肌病和心律失常患者的治疗和管理提供关键信息，并且适用于各种病症。它可以提供心律失常风险、生活方式建议（如避免运动）、药物治疗和预后等方面的信息。除了先证者之外，基因检测还可以作为家族级联筛查的有用工具。基因检测应该与遗传咨询相结合，因为基因检测应该伴随专家解读、对级联家族评估的支持和社会心理因素的考虑。总的来说，它应该在心律失常和心肌病诊所中常规实施。
