PDF(Pubmed)
Abstract：
UNASSIGNED: Interatrial block (IAB) is a conduction delay in Bachmann\'s bundle with a well-described association with structural heart disease, supraventricular arrhythmias, and cardiovascular events.
UNASSIGNED: We report the case of an asymptomatic 35-year-old man in whom the presence of IAB at electrocardiogram led to a comprehensive evaluation including speckle-tracking echocardiography, 24 h Holter monitoring, and genetic testing. Speckle-tracking echocardiography demonstrated a decrease in the longitudinal strain of interventricular septum, a typical feature of LMNA-related cardiomyopathy, and decreased indices of left atrial deformation. A diagnosis of cardiac laminopathy related to the frame shift variant c.1367 (p.Asn456Thrfs*24) of the LMNA gene was made. A dual-chamber implantable cardioverter defibrillator implantation was performed for the high risk of life-threatening ventricular tachyarrhythmias.
UNASSIGNED: This case demonstrates that IAB could be a rare presentation of a life-threatening laminopathy. Strain echocardiography is an essential tool to evaluate the deposition of fibrosis tissue in subclinical cardiomyopathies. Our report describes a novel variant of LMNA gene associated with a high risk of sudden cardiac death.
UNASSIGNED: We report the case of an asymptomatic 35-year-old man in whom the presence of IAB at electrocardiogram led to a comprehensive evaluation including speckle-tracking echocardiography, 24 h Holter monitoring, and genetic testing. Speckle-tracking echocardiography demonstrated a decrease in the longitudinal strain of interventricular septum, a typical feature of LMNA-related cardiomyopathy, and decreased indices of left atrial deformation. A diagnosis of cardiac laminopathy related to the frame shift variant c.1367 (p.Asn456Thrfs*24) of the LMNA gene was made. A dual-chamber implantable cardioverter defibrillator implantation was performed for the high risk of life-threatening ventricular tachyarrhythmias.
UNASSIGNED: This case demonstrates that IAB could be a rare presentation of a life-threatening laminopathy. Strain echocardiography is an essential tool to evaluate the deposition of fibrosis tissue in subclinical cardiomyopathies. Our report describes a novel variant of LMNA gene associated with a high risk of sudden cardiac death.
摘要：
■心房传导阻滞（IAB）是Bachmann束中的传导延迟，与结构性心脏病有良好的联系，室上性心律失常,和心血管事件。
■我们报告了一例无症状的35岁男性，其心电图中存在IAB导致包括斑点追踪超声心动图在内的综合评估，24hHolter监测，和基因检测。斑点追踪超声心动图显示室间隔的纵向应变减少，LMNA相关心肌病的典型特征，左心房变形指数下降。与帧移位变异c.1367有关的心脏椎板病的诊断（第取得了LMNA基因的Asn456Thrfs*24)。针对危及生命的室性快速性心律失常的高风险，进行了双腔植入式心律转复除颤器植入。
■此病例表明IAB可能是一种罕见的危及生命的层肌病。应变超声心动图是评估亚临床心肌病中纤维化组织沉积的重要工具。我们的报告描述了与心脏猝死高风险相关的LMNA基因的新变体。
■我们报告了一例无症状的35岁男性，其心电图中存在IAB导致包括斑点追踪超声心动图在内的综合评估，24hHolter监测，和基因检测。斑点追踪超声心动图显示室间隔的纵向应变减少，LMNA相关心肌病的典型特征，左心房变形指数下降。与帧移位变异c.1367有关的心脏椎板病的诊断（第取得了LMNA基因的Asn456Thrfs*24)。针对危及生命的室性快速性心律失常的高风险，进行了双腔植入式心律转复除颤器植入。
■此病例表明IAB可能是一种罕见的危及生命的层肌病。应变超声心动图是评估亚临床心肌病中纤维化组织沉积的重要工具。我们的报告描述了与心脏猝死高风险相关的LMNA基因的新变体。
