Leon H. Charney Division of Cardiology, NYU Langone Medical Center, NY, USA.
Minerva Med. 2011 Jun;102(3):209-22.
Continued research into the identification of mutated genes that cause inherited arrhythmogenic diseases has helped forward understanding into their pathophysiology. Over the last two decades the progress that has been made in the realm of genetic arrhythmias has made it possible not only for symptomatic patients to improve their outcomes, but also family members to better understand their risks and allow them in conjunction with their care providers to make the best decisions for their care. With this continued progress, significant changes will continue to occur in clinical practice. The advances in technology coupled with the improving understanding of genetically determined arrhythmias assists in earlier recognition of potentially fatal diseases, which leads to earlier implementation of treatment. It is the aim of this article to abridge the current knowledge of the genetic background of inherited arrhythmogenic diseases, namely long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. Pathogenesis and genotype-phenotype correlations are also discussed.
对导致遗传性心律失常疾病的突变基因的鉴定的持续研究有助于深入了解其病理生理学。在过去的二十年中，在遗传性心律失常领域取得的进展不仅使有症状的患者能够改善其预后，而且还使家庭成员能够更好地了解其风险，并使他们能够与其护理提供者一起为他们的护理做出最佳决策。随着这一持续进展，临床实践将继续发生重大变化。技术的进步加上对遗传性心律失常的理解的提高有助于更早地识别潜在致命疾病，从而更早地实施治疗。本文旨在简述遗传性心律失常疾病（即长 QT 综合征、短 QT 综合征、Brugada 综合征和儿茶酚胺多形性室性心动过速）的遗传背景的现有知识。还讨论了发病机制和基因型-表型相关性。
