Berul C I, Christe M E, Aronovitz M J, Seidman C E, Seidman J G, Mendelsohn M E
Division of Pediatric Cardiology, Tufts University School of Medicine, Massachusetts 02111, USA.
J Clin Invest. 1997 Feb 15;99(4):570-6. doi: 10.1172/JCI119197.
A new mouse cardiac electrophysiology method was used to study mice harboring an alpha-myosin heavy chain Arg403Gln missense mutation (alpha-MHC403/+), which results in histological and hemodynamic abnormalities characteristic of familial hypertrophic cardiomyopathy (FHC) and sudden death of uncertain etiology during exercise. Wild-type animals had completely normal cardiac electrophysiology. In contrast, FHC mice demonstrated (a) electrocardiographic abnormalities including prolonged repolarization intervals and rightward axis; (b) electrophysiological abnormalities including heterogeneous ventricular conduction properties and prolonged sinus node recovery time; and (c) inducible ventricular ectopy. These data identify distinct electrophysiologic abnormalities in FHC mice with a specific alpha-myosin mutation, and also validate a novel method to explore in vivo the relationship between specific genotypes and their electrophysiologic phenotypes.
一种新的小鼠心脏电生理学方法被用于研究携带α-肌球蛋白重链Arg403Gln错义突变（α-MHC403/+）的小鼠，该突变导致家族性肥厚型心肌病（FHC）的组织学和血流动力学异常以及运动期间病因不明的猝死。野生型动物的心脏电生理学完全正常。相比之下，FHC小鼠表现出：（a）心电图异常，包括复极间期延长和电轴右偏；（b）电生理异常，包括心室传导特性不均一和窦房结恢复时间延长；以及（c）可诱导的室性早搏。这些数据确定了具有特定α-肌球蛋白突变的FHC小鼠中独特的电生理异常，并且还验证了一种在体内探索特定基因型与其电生理表型之间关系的新方法。
