A case of desmoplakin mutation and delayed arrhythmogenic right ventricular cardiomyopathy/dysplasia after atrial septal defect closure
A case of desmoplakin mutation and delayed arrhythmogenic right ventricular cardiomyopathy/dysplasia after atrial septal defect closure
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房间隔缺损封堵术后桥粒斑蛋白突变并致迟发性心律失常性右心室心肌病/发育不良一例
DOI：
10.1016/j.jccase.2018.09.005
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发表时间：
2019
影响因子：
--
通讯作者：
Hagiwara Nobuhisa
中科院分区：
文献类型：
--
作者：
Yoshida Ayano;Suzuki Atsushi;Kawada Erisa;Tobita Takashige;Serizawa Naoki;Suzuki Tsuyoshi;Arai Kotaro;Shiga Tsuyoshi;Shoda Morio;Yosizawa Saeko;Uto Kenta;Masui Kenta;Hagiwara Nobuhisa
致心律失常性右心室心肌病/发育不良（ARVC/D）是一种以室性心律失常和右心室（RV）心肌纤维脂肪替代为特征的缓慢发展的心肌病。由于其临床表现多变且遗传易感性低，其临床诊断具有挑战性。我们描述的情况下，67岁的男子被诊断为ARVC/D与桥粒斑蛋白突变后出现的房间隔缺损（ASD）封堵。他在54岁时接受了ASD补片闭合手术。四年后，他因多灶性房性心动过速接受了导管消融术。由于晕厥前和可诱导的持续性单形性室性心动过速，植入心律转复除颤器。当他在61岁时因心力衰竭恶化而入院时，桥粒斑蛋白突变被检测到伴有进行性左心室（LV）功能障碍。随后，他被诊断为ARVC/D伴RV功能障碍。在心脏尸检时，检测到ARVC/D的特征，包括右心室扩张、纤维脂肪改变和左心室弥漫性纤维化。沿着ASD引起的RV功能障碍的影响，ASD封堵术后LV功能障碍的进展也可能是由ARVC/D的疾病进展引起的。医生应仔细评估ARVC/D的各种状态。致心律失常性右心室心肌病/发育不良（ARVC/D）是一种以心律失常、右心室（RV）心肌纤维脂肪替代和缓慢进展为更弥漫性心室功能障碍为特征的心肌病。该病例涉及房间隔缺损（ASD），其促进了RV衰竭，并在ASD闭合后并发ARVC/D延迟进展。目前的情况表明，医生需要仔细评估ARVC/D的各种状态。
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a slow-developing cardiomyopathy characterized by ventricular arrhythmias and fibrofatty replacement of the right ventricular (RV) myocardium. Its clinical diagnosis is challenging because of its variable clinical presentation and low genetic penetrance. We describe the case of a 67-year-old man who was diagnosed as having ARVC/D with a desmoplakin mutation that appeared after occlusion of an atrial septal defect (ASD). He underwent patch closure surgery for ASD at the age of 54 years. Four years later, he underwent catheter ablation for multifocal atrial tachycardias. Because of pre-syncope and inducible sustained monomorphic ventricular tachycardia, an implantable cardioverter defibrillator was implanted. When he was admitted for worsening heart failure at the age of 61 years, the desmoplakin mutation was detected with progressive left ventricular (LV) dysfunction. Subsequently, he was diagnosed as having ARVC/D with RV dysfunction. At cardiac autopsy, characteristics of ARVC/D, including dilatation, fibrofatty changes in the right ventricle, and diffuse fibrosis in the left ventricle were detected. Along with the effect of RV dysfunction caused by ASD, the progression of LV dysfunction after ASD closure was also possibly caused by the disease progression of ARVC/D. Physicians should carefully assess the various states of ARVC/D.<Learning objective:Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a cardiomyopathy characterized by arrhythmias, fibrofatty replacement of the right ventricular (RV) myocardium, and slow progression to more diffuse ventricular dysfunction. This case involved an atrial septal defect (ASD) that promoted the RV failure and was complicated with delayed progression of ARVC/D after ASD closure. The present case suggests that physicians need to carefully assess the various states of ARVC/D.>