Cardiovascular Disease, Summa Health System, 95 Arch Street, Suite 300, Akron, OH 44304, USA.
Cardiovascular Disease Fellowship, Summa Health Heart and Vascular Institute, Summa Health System, 95 Arch Street, Suite 350, Akron, OH 44304, USA.
Med Clin North Am. 2019 Sep;103(5):809-820. doi: 10.1016/j.mcna.2019.05.001.
With recent advances in genetic diagnostics, many inherited diseases, which can cause life-threatening arrhythmias, are being better characterized. Many of these diseases are caused by genetic disorders that affect the function of the ion channels that regulate the action potential or the function of important cardiac muscle regulatory proteins. This article summarizes the diseases that we have learned about, such as the long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. The article examines the diagnosis, genetic screening of patients and their relatives, management, and referral to a specialist for further therapy.
随着基因诊断技术的最新进展，许多可导致危及生命的心律失常的遗传性疾病得到了更好的描述。这些疾病中的许多是由影响调节动作电位的离子通道或重要心肌调节蛋白功能的遗传紊乱引起的。本文总结了我们所了解的疾病，如长 QT 综合征、Brugada 综合征和儿茶酚胺多形性室性心动过速。文章探讨了这些疾病的诊断、患者及其亲属的基因筛查、管理以及转介给专家进行进一步治疗的问题。
