Division of Cardiovascular Medicine, Saitama Medical Center, Jichi Medical University, 1-847 Amanuma, Omiya, Saitama, 330-8503, Japan.
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Shiga, Japan.
BMC Cardiovasc Disord. 2019 Feb 19;19(1):41. doi: 10.1186/s12872-019-1018-2.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized by fibrofatty replacement and ventricular arrhythmias. ARVC is believed to be a disease of the young, with most cases being diagnosed before the age of 40 years. We report here a case of newly diagnosed ARVC in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene (PKP2).
An 80-year-old Japanese man was referred for sustained ventricular tachycardia. His baseline electrocardiogram showed negative T waves in V1-V4. Right ventriculography showed right ventricular aneurysm. Because this case met three major criteria, ARVC was diagnosed. He was successfully treated with radiofrequency ablation and oral amiodarone. Genetic analysis identified an insertion mutation in exon 8 of PKP2 (1725_1728dupGATG), which caused a frameshift and premature termination of translation (R577DfsX5).
To the best of our knowledge, this is the first report of newly diagnosed ARVC in an octogenarian associated with a loss-of-function PKP2 pathogenic variant. Although the late clinical presentation of ARVC is rare, it should be included in the differential diagnosis when treating older patients with ventricular tachyarrhythmias.
致心律失常性右室心肌病（ARVC）是一种遗传性心肌疾病，其特征为纤维脂肪替代和室性心律失常。ARVC 被认为是一种青年疾病，大多数病例在 40 岁之前得到诊断。我们在此报告一例 80 岁新诊断的 ARVC 病例，与桥粒斑蛋白 2 基因（PKP2）的致病性变异有关。
一名 80 岁的日本男性因持续性室性心动过速被转介。他的基线心电图显示 V1-V4 导联的 T 波倒置。右心室造影显示右心室瘤。由于该病例符合三个主要标准，因此诊断为 ARVC。他成功地接受了射频消融和口服胺碘酮治疗。基因分析发现 PKP2 外显子 8 中的插入突变（1725_1728dupGATG），导致移码和翻译提前终止（R577DfsX5）。
据我们所知，这是首例与丧失功能的 PKP2 致病性变异相关的 80 岁新诊断 ARVC 病例报告。虽然 ARVC 的晚期临床表现较为罕见，但在治疗老年室性心动过速患者时，应将其纳入鉴别诊断。
