Abstract：
Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for cardiomyopathy. In the context of a family, the early evident cutaneous features may serve as a clinical screening tool to spot arrhythmogenic cardiomyopathy in subclinical stage. \"Myocarditis-like episodes\" may step up the disease evolution or mark a transition from concealed to symptomatic cardiomyopathy phase. Arrhythmogenic cardiomyopathy in Naxos disease shows increased penetrance and phenotypic expression but its arrhythmic risk is analogous to dominant forms.
摘要：
Naxos病是一种隐性遗传性心律失常性心肌病，伴有掌plant角质病和羊毛毛。在斑红蛋白基因中鉴定出的致病突变表明桥粒蛋白复合物可能是心肌病的罪魁祸首。在一个家庭的背景下，早期明显的皮肤特征可作为亚临床期心律失常性心肌病的临床筛查工具.“心肌炎样发作”可能加速疾病演变或标志着从隐匿到症状性心肌病阶段的过渡。Naxos病中的心律失常性心肌病显示出外显率和表型表达增加，但其心律失常风险类似于显性形式。
