Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report

Rui Huang,1,* YinHua Luo,2,* Jingbo Zhao,1 Ke Su,1 YuHua Lei,1 Yuanhong Li1 1Cardiovascular Disease Center, Central Hospital of Tujia and Miao Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi Prefecture, 445000, Hubei Province, People’s Republic of China; 2Department of Central Hospital of Tujia and Miao Autonomous Prefecture, Hubei University of Medicine, Shiyan, 442000, Hubei Province, People’s Republic of China*These authors contributed equally to this workCorrespondence: Yuanhong LiCardiovascular Disease Center, Central Hospital of Tujia and Miao Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi Prefecture, No. 158 Wuyang Avenue, Enshi City, Hubei Province, People’s Republic of ChinaEmail lyh0101@vip.163.comBackground: ARVC is a rare genetic-related disease characterized by fibrous fat replacement in the ventricular myocardium, caused by mutations in genes encoding for the desmosomal proteins, such as the desmoglein-2 gene (DSG2). It is reported in the literature that other genetic factors may play a role in disease penetrance. Herein, we report a Chinese proband with ARVC, which was probably caused by DSG2 p.Val149Ile mutation as genetic background when carrying heterozygous PRRT2 p.Arg217ProfsTer8 mutation.Case Presentation: A 17-year-old male with a history of paroxysmal kinesigenic dyskinesia (PKD) presented to the hospital for syncope induced by ventricular tachycardia. According to relevant clinical data and the diagnostic criteria of ARVC, a precise positive diagnosis of ARVC was finally made. Gene testing revealed that the patient carried a DSG2 heterozygous missense mutation (NM_001943: exon5: c.445G>A, p.Val149Ile) as well as frameshift mutation of PRRT2 (NM_001256442: exon2: p. Arg217Profs Ter8).Conclusion: This is the first time to report a Chinese proband with ARVC and a history of PKD carrying both DSG2 p. val149ile mutation and PRRT2 p. Arg217ProfsTer8 mutation, which can provide a new direction for gene screening of patients with ARVC and further supplements for its diagnostic criteria.Keywords: arrhythmogenic right ventricular cardiomyopathy, ARVC, desmosomal proteins, desmoglein-2 gene, DSG2