シガ　ツヨシ   Shiga Tsuyoshi   志賀　剛    所属   医学部 医学科（東京女子医科大学病院）    職種   客員教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A case of desmoplakin mutation and delayed arrhythmogenic right ventricular cardiomyopathy/dysplasia after atrial septal defect closure.
掲載誌名	正式名：Journal of cardiology cases 略　 称：J Cardiol Cases ISSNコード：1878-5409
掲載区分	国内
出版社	Elsevier B.V.
巻・号・頁	19(4),pp.111-114
著者・共著者	YOSHIDA Ayano†, SUZUKI Atsushi*, KAWADA Erisa, TOBITA Takashige, SERIZAWA Naoki, SUZUKI Tsuyoshi, ARAI Kotaro, SHIGA Tsuyoshi, SHODA Morio, YOSHIZAWA Saeko, UTO Kenta, MASUI Kenta, HAGIWARA Nobuhisa
発行年月	2019/02
概要	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.>.
DOI	10.1016/j.jccase.2018.09.005
PMID	30996754