Department of Vascular Surgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing 102218, China.
Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Genes (Basel). 2024 Oct 24;15(11):1368. doi: 10.3390/genes15111368.
Hereditary arrhythmias, as a class of cardiac electrophysiologic abnormalities caused mainly by genetic mutations, have gradually become one of the most important causes of sudden cardiac death in recent years. With the continuous development of genetics and molecular biology techniques, the study of inherited arrhythmias has made remarkable progress in the past few decades. More and more disease-causing genes are being identified, and there have been advances in the application of genetic testing for disease screening in individuals with disease and their family members. Determining more refined disease prevention strategies and therapeutic regimens that are tailored to the genetic characteristics and molecular pathogenesis of different groups or individuals forms the basis of individualized treatment. Understanding advances in the study of inherited arrhythmias provides important clues to better understand their pathogenesis and clinical features. This article provides a review of the pathophysiologic alterations caused by genetic variants and their relationship to disease phenotypes, including mainly cardiac ion channelopathies and cardiac conduction disorders.
遗传性心律失常是一类主要由基因突变引起的心脏电生理异常，近年来已逐渐成为导致心源性猝死的最重要原因之一。随着遗传学和分子生物学技术的不断发展，遗传性心律失常的研究在过去几十年中取得了显著进展。越来越多的致病基因被鉴定出来，并且在具有疾病的个体及其家庭成员中进行疾病筛查的基因检测的应用也取得了进展。确定更精细的疾病预防策略和针对不同群体或个体的遗传特征和分子发病机制的治疗方案是个体化治疗的基础。了解遗传性心律失常研究的进展为更好地理解其发病机制和临床特征提供了重要线索。本文综述了遗传变异引起的病理生理改变及其与疾病表型的关系，主要包括心脏离子通道病和心脏传导障碍。
