PDF(Pubmed)
Abstract：
UNASSIGNED: In contrast to previously thought, arrhythmogenic cardiomyopathy can occur exclusively in the left ventricle in association with autosomal dominant mutation, even without any skin manifestations.
UNASSIGNED: We present a case of a 43-year-old male with left ventricle (LV)-predominant arrhythmogenic cardiomyopathy (ACM) caused by a novel p.Q1830 mutation in the desmoplakin (DSP) gene. The patient had a significant family history of sudden cardiac death (SCD) and presented with presyncope and exertional dyspnea. The patient\'s electrocardiography (ECG) showed frequent premature ventricular complexes (PVCs) with bigeminy and couplet patterns. Cardiac magnetic resonance imaging (CMR) revealed late gadolinium enhancement of the left ventricle (LV) and ventricular systolic dysfunction, suggesting LV-predominant arrhythmogenic cardiomyopathy. The patient was started on guideline-directed medical therapy (GDMT), and an implantable cardioverter-defibrillator (ICD) was implanted for primary prevention. The patient reported significant improvement in his heart failure symptoms at the 2-year follow-up. The article highlights the importance of timely diagnosis with multimodality imaging and genetic testing and management of the rare DSP-related LV-predominant ACM associated with a high risk of SCD.
UNASSIGNED: We present a case of a 43-year-old male with left ventricle (LV)-predominant arrhythmogenic cardiomyopathy (ACM) caused by a novel p.Q1830 mutation in the desmoplakin (DSP) gene. The patient had a significant family history of sudden cardiac death (SCD) and presented with presyncope and exertional dyspnea. The patient\'s electrocardiography (ECG) showed frequent premature ventricular complexes (PVCs) with bigeminy and couplet patterns. Cardiac magnetic resonance imaging (CMR) revealed late gadolinium enhancement of the left ventricle (LV) and ventricular systolic dysfunction, suggesting LV-predominant arrhythmogenic cardiomyopathy. The patient was started on guideline-directed medical therapy (GDMT), and an implantable cardioverter-defibrillator (ICD) was implanted for primary prevention. The patient reported significant improvement in his heart failure symptoms at the 2-year follow-up. The article highlights the importance of timely diagnosis with multimodality imaging and genetic testing and management of the rare DSP-related LV-predominant ACM associated with a high risk of SCD.
摘要：
■与以前的想法相反，致心律失常性心肌病可以仅发生在左心室，与常染色体显性突变相关，即使没有任何皮肤表现。
■我们介绍了一例43岁男性左心室（LV）为主的心律失常性心肌病（ACM），其原因是桥粒斑蛋白（DSP）基因中的一个新的p.Q1830突变。该患者有明显的心源性猝死（SCD）家族史，并伴有晕厥前和劳力性呼吸困难。患者的心电图（ECG）显示频繁的室性早搏（PVC），具有双联和对联模式。心脏磁共振成像（CMR）显示左心室（LV）的钆增强晚期和心室收缩功能障碍，提示LV型心律失常性心肌病。患者开始接受指南指导的药物治疗（GDMT），植入了植入式心律转复除颤器(ICD)进行一级预防.在2年的随访中,患者报告其心力衰竭症状显著改善。本文强调了通过多模态成像和基因检测及时诊断以及与SCD高风险相关的罕见DSP相关的LV占优势的ACM的管理的重要性。
■我们介绍了一例43岁男性左心室（LV）为主的心律失常性心肌病（ACM），其原因是桥粒斑蛋白（DSP）基因中的一个新的p.Q1830突变。该患者有明显的心源性猝死（SCD）家族史，并伴有晕厥前和劳力性呼吸困难。患者的心电图（ECG）显示频繁的室性早搏（PVC），具有双联和对联模式。心脏磁共振成像（CMR）显示左心室（LV）的钆增强晚期和心室收缩功能障碍，提示LV型心律失常性心肌病。患者开始接受指南指导的药物治疗（GDMT），植入了植入式心律转复除颤器(ICD)进行一级预防.在2年的随访中,患者报告其心力衰竭症状显著改善。本文强调了通过多模态成像和基因检测及时诊断以及与SCD高风险相关的罕见DSP相关的LV占优势的ACM的管理的重要性。
