Napolitano Carlo, Priori Silvia G
G Ital Cardiol (Rome). 2014 Dec;15(12):670-7. doi: 10.1714/1718.18768.
Today the ECG is still, over 100 years after its invention (Willem Einthoven 1903), the most commonly used diagnostic procedure in clinical cardiology. In recent years, we have accumulated knowledge that has significantly expanded the diagnostic possibilities of ECG, through the recognition of patterns associated with a number of primary electrical diseases of the myocardium, the so-called inherited arrhythmogenic diseases. These clinical entities are caused by gene mutations that determine a substrate leading to the onset of life-threatening rhythm disturbances. The study of ECG abnormalities in these diseases showed characteristic phenotypic traits, which in combination with information derived from molecular genetics, have allowed using the ECG as a prognostic tool as well as a diagnostic test. The assessment of genotype-phenotype correlations in inherited arrhythmogenic diseases has allowed to advance the idea of the ECG as an inheritable trait. Such heritable quantitative traits are potentially related to the risk of sudden death in the general population, which is known to have a familial predisposition. This article summarizes the pathophysiology and phenotypic manifestation of the main arrhythmogenic diseases. Also shown are current possibilities and limitations of the use of a simple and low-cost technology, not only as a tool for diagnosis but also as a tool to identify prognostic markers. We will show how, rather surprisingly, the ECG often allows extracting the most important information for appropriate risk classification and clinical management.
在心电图发明(威廉·艾因托芬,1903年)100多年后的今天,它仍然是临床心脏病学中最常用的诊断方法。近年来,我们积累的知识通过识别与多种原发性心肌电疾病(即所谓的遗传性心律失常疾病)相关的模式,显著扩展了心电图的诊断可能性。这些临床病症是由基因突变引起的,这些突变决定了导致危及生命的心律失常发作的基质。对这些疾病中心电图异常的研究显示出特征性的表型特征,这些特征与分子遗传学得出的信息相结合,使得心电图既可以作为一种预后工具,也可以作为一种诊断测试。对遗传性心律失常疾病中基因型 - 表型相关性的评估推进了心电图作为一种可遗传特征的观点。这种可遗传的定量特征可能与一般人群中已知具有家族易感性的猝死风险相关。本文总结了主要心律失常疾病的病理生理学和表型表现。还展示了使用这种简单且低成本技术的当前可能性和局限性,它不仅作为一种诊断工具,还作为一种识别预后标志物的工具。我们将展示,相当令人惊讶的是,心电图常常能够提取出用于适当风险分类和临床管理的最重要信息。