心律失常性心肌病是一种非缺血性心肌病,其特征是存在心肌功能障碍和遗传性传导疾病,使患者易于发生恶性室性心律失常和心源性猝死。人们越来越意识到心律失常性心肌病的不同表型表现,这可能表明左派优先参与,右心室或两个心室。心律失常性心肌病的一个子集可能是由于桥粒的突变,促进结构和电完整性的心肌细胞间连接。Desmoplain的突变,由DSP基因和桥粒的关键组成蛋白编码,与心律失常性心肌病的发病有关。我们提供了一个结构化的病例报告,继发于新型杂合子DSP突变(c.1061T>C和c.795G>C)的桥粒斑块心律失常性心肌病,表现为早发性非缺血性心肌病和复发性室性心动过速,对多种治疗方式均有难治性。包括口服抗心律失常药,心脏消融和双侧交感神经切除术,以及频繁的植入式心脏复律除颤器放电。
Arrhythmogenic cardiomyopathy is a non-ischaemic cardiomyopathy characterised by the presence of myocardial dysfunction and inherited conduction disease that predisposes patients to malignant ventricular arrhythmias and sudden cardiac death. There is a growing awareness of the diverse phenotypic presentation of arrhythmogenic cardiomyopathy, which may demonstrate preferential involvement of the left, right or both ventricles. A subset of arrhythmogenic cardiomyopathy may be due to mutations of desmosomes, intercellular junctions of the myocardium that promote structural and electrical integrity. Mutations of desmoplakin, encoded by the DSP gene and a critical constituent protein of desmosomes, have been implicated in the onset of arrhythmogenic cardiomyopathy. We present a structured case report of desmoplakin arrhythmogenic cardiomyopathy secondary to novel heterozygous DSP mutations (c.1061T>C and c.795G>C) manifesting as early onset non-ischaemic cardiomyopathy and recurrent ventricular tachycardia refractory to multiple modalities of therapy, including oral antiarrhythmics, cardiac ablation and bilateral sympathectomy, as well as frequent implantable cardioverter-defibrillator discharges.