Arrhythmogenic cardiomyopathy is a myocardial disorder characterized by ventricular arrhythmias, right and/or left ventricular involvement, and fibrofatty infiltrations in the myocardium. We report a family diagnosed with arrhythmogenic left ventricular cardiomyopathy (ALVC) and depict their echocardiographic characteristics. Fifteen family members were divided into three groups based on whether they carried the TMEM43 mutation and had been diagnosed with ALVC. Eight of them had TMEM43 mutations, and four were diagnosed with ALVC according to the Padua criteria. Only the proband experienced sudden cardiac death and had a dilated left ventricle. Left ventricular ejection fraction was reduced in two patients; however, left ventricular global longitudinal strain was depressed in three patients. Low QRS voltages in limb leads were evident in three patients, and five patients had frequent ventricular premature contractions. Late gadolinium enhancement was evident in three patients. Left ventricular layer-specific strain showed that the transmural strain gradient ratio was increased in patients diagnosed with ALVC, and it was elevated in the genotype-positive and phenotype-negative groups compared with healthy individuals. Global left ventricular longitudinal strain better evaluated left ventricular function than left ventricular ejection fraction. The transmural strain gradient ratio was elevated in patients diagnosed with ALVC, suggesting that it was useful for the evaluation of ALVC.

中文翻译：

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通过二维散斑跟踪超声心动图测量一个被诊断为心律失常性左心室心肌病的家庭的心肌应变

致心律失常性心肌病是一种以室性心律失常、右心室和/或左心室受累以及心肌中的纤维脂肪浸润为特征的心肌疾病。我们报告了一个被诊断患有致心律失常性左心室心肌病 (ALVC) 的家庭，并描述了他们的超声心动图特征。15 名家庭成员根据是否携带 TMEM43 突变并被诊断为 ALVC 分为三组。其中 8 人具有 TMEM43 突变，4 人根据帕多瓦标准被诊断为 ALVC。只有先证者经历了心源性猝死并且左心室扩张。两名患者的左心室射血分数降低；然而，三名患者的左心室整体纵向应变受到抑制。3 名患者肢体导联 QRS 电压低，5 名患者频繁出现室性早搏。3 名患者出现明显的晚期钆增强。左心室层特异性应变显示，诊断为 ALVC 的患者的透壁应变梯度比增加，与健康个体相比，基因型阳性和表型阴性组的透壁应变梯度比升高。整体左心室纵向应变比左心室射血分数更好地评估左心室功能。在诊断为 ALVC 的患者中，透壁应变梯度比升高，表明它可用于评估 ALVC。左心室层特异性应变显示，诊断为 ALVC 的患者的透壁应变梯度比增加，与健康个体相比，基因型阳性和表型阴性组的透壁应变梯度比升高。整体左心室纵向应变比左心室射血分数更好地评估左心室功能。在诊断为 ALVC 的患者中，透壁应变梯度比升高，表明它可用于评估 ALVC。左心室层特异性应变显示，诊断为 ALVC 的患者的透壁应变梯度比增加，与健康个体相比，基因型阳性和表型阴性组的透壁应变梯度比升高。整体左心室纵向应变比左心室射血分数更好地评估左心室功能。在诊断为 ALVC 的患者中，透壁应变梯度比升高，表明它可用于评估 ALVC。整体左心室纵向应变比左心室射血分数更好地评估左心室功能。在诊断为 ALVC 的患者中，透壁应变梯度比升高，表明它可用于评估 ALVC。整体左心室纵向应变比左心室射血分数更好地评估左心室功能。在诊断为 ALVC 的患者中，透壁应变梯度比升高，表明它可用于评估 ALVC。