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首页> 外文期刊>Circulation journal >Age-Dependent Clinical and Genetic Characteristics in Japanese Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
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Age-Dependent Clinical and Genetic Characteristics in Japanese Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

机译：日本心律失常性右室心肌病/异型增生患者的年龄依赖性临床和遗传特征

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Background: ?Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease caused by desmosomal gene mutations, and presents as ventricular tachycardia and sudden cardiac death. Although the mean age at onset or diagnosis of ARVC/D are reported to be around the 30–40s, the age-dependent clinical and genetic differences remain unknown. Methods and Results: ?A total of 35 consecutive Japanese probands (23 male) who were clinically diagnosed with ARVC/D were enrolled in the present study, and genetic analysis of PKP2 , DSP , DSG2 , and DSC2 was done. The mean age at the first symptom and at diagnosis was 38.6±14.8 years and 40.5±17.7 years, respectively. Probands in whom the onset was cardiopulmonary arrest were significantly younger (22.3±15.3 years) than those with arrhythmia (41.1±13.2 years) or congestive heart failure (45.7±8.5 years). On genetic screening, 19 mutation carriers were identified. Although there was no age dependence for each gene mutation carrier, carriers with PKP2 premature stop codon developed the disease at a significantly younger age than other mutation carriers. Conclusions: ?The initial clinical manifestations in some young probands were very severe, and PKP2 mutations with a premature stop codon would be associated with disease onset at a younger age.??(Circ J?2013; 77: 1534–1542)
机译：背景：？致心律失常性右室心肌病/异型增生（ARVC / D）是由桥粒基因突变引起的心肌疾病，表现为室性心动过速和心源性猝死。尽管据报道ARVC / D发病或诊断的平均年龄在30-40岁左右，但年龄依赖性的临床和遗传差异仍然未知。方法和结果：本研究共纳入了35名连续被临床诊断为ARVC / D的日本先证者（23名男性），并对PKP2，DSP，DSG2和DSC2进行了遗传分析。首次出现症状时和诊断时的平均年龄分别为38.6±14.8岁和40.5±17.7岁。与心律不齐（41.1±13.2岁）或充血性心力衰竭（45.7±8.5岁）相比，发生心肺骤停的先证者（22.3±15.3岁）明显年轻。通过基因筛选，鉴定出19个突变携带者。尽管每种基因突变携带者都没有年龄依赖性，但具有PKP2过早终止密码子的携带者比其他突变携带者的年龄显着年轻。结论：“某些年轻先证者的初始临床表现非常严重，并且带有过早终止密码子的PKP2突变将与更年轻的疾病发作相关。”（Circ J？2013; 77：1534-1542）

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