Molecular pathogenesis of long QT syndrome type 1.
Molecular pathogenesis of long QT syndrome type 1.
复制标题
1型长QT综合征的分子发病机制
DOI：
10.1016/j.joa.2015.12.006
复制
发表时间：
2016-10
影响因子：
2
通讯作者：
Horie M
中科院分区：
文献类型：
--
作者：
Wu J;Ding WG;Horie M
长QT综合征1型（LQT 1）是由KCNQ 1基因突变引起的先天性心脏综合征的一种亚型，该基因编码延迟整流钾电流（IKs）慢成分的α亚基。LQT 1型心律失常的特征是ECG上QT间期延长，以及经常由肾上腺素能刺激（例如，身体或情绪压力）。在过去的二十年中，在了解LQT 1的分子发病机制方面取得了很大进展。揭示LQT 1基因型-表型相关性对于更好地理解可能影响特定条件下发生危及生命的心律失常倾向的基因特异性差异具有临床重要性。这些机制的阐明也将有助于改善基于基因特异性考虑的这种心脏疾病的诊断和管理。本文综述了目前的医学共识和最新进展，LQT 1的分子发病机制，并提供了一个新的见解肾上腺素能调节这种疾病。
Long QT syndrome type 1 (LQT1) is a subtype of a congenital cardiac syndrome caused by mutation in the KCNQ1 gene, which encodes the α-subunit of the slow component of delayed rectifier K+ current (IKs) channel. Arrhythmias in LQT1 are characterized by prolongation of the QT interval on ECG, as well as the occurrence of life-threatening cardiac events, frequently triggered by adrenergic stimuli (e.g., physical or emotional stress). During the past two decades, much advancement has been made in understanding the molecular pathogenesis underlying LQT1. Uncovering the genotype-phenotype correlations in LQT1 is of clinical importance to better understand the gene-specific differences that may influence the propensity for developing life-threatening arrhythmias under specific conditions. Elucidation of these mechanisms will also help to improve the diagnosis and management of this cardiac disorder based on gene-specific considerations. This review describes the current medical consensus and recent developments regarding the molecular pathogenesis of LQT1 and provides a novel insight into the adrenergic regulation of this disease.