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The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes

机译:遗传学最新进展对理解长QT综合征潜在疾病机制的影响

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摘要

Long QT syndrome refers to a characteristic abnormality of the electrocardiogram and it is associated with a form of ventricular tachycardia known as torsade-de-pointes and sudden arrhythmic death. It can occur as part of a hereditary syndrome or can be acquired usually because of drug administration. Here we review recent genetic, molecular and cellular discoveries and outline how they have furthered our understanding of this disease. Specifically we focus on compound mutations, genome wide association studies of QT interval, modifier genes and the therapeutic implications of this recent work.
机译:长QT综合征指的是心电图的特征异常,它与室速有关,称为扭转性心律失常和心律失常猝死。它可能是遗传综合征的一部分,也可能是由于药物管理而获得的。在这里,我们回顾了最近的遗传,分子和细胞发现,并概述了它们如何加深了我们对该疾病的了解。具体来说,我们专注于化合物突变,QT间隔的全基因组关联研究,修饰基因以及这项最新研究的治疗意义。

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