Finsterer Josef, Stöllberger Claudia
Krankenanstalt Rudolfstiftung, Vienna, Austria.
2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Clin Med Insights Cardiol. 2016 Oct 19;10:173-180. doi: 10.4137/CMC.S38446. eCollection 2016.
Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in primary myopathies. This review gives an overview about myopathy-associated ARVD and how these patients can be managed.
A literature review was done using appropriate search terms.
The myopathy, which is most frequently associated with ARVD, is the myofibrillar myopathy due to desmin mutations. Only in a single patient, ARVD was described in myotonic dystrophy type 1. However, there are a number of genes causing either myopathy or ARVD. These genes include lamin A/C, ZASP/cypher, transmembrane protein-43, titin, and the ryanodine receptor-2 gene. Diagnosis and treatment are identical for myopathy-associated ARVD and nonmyopathy-associated ARVD.
Patients with primary myopathy due to mutations in the desmin, dystrophia myotonica protein kinase, lamin A/C, ZASP/cypher, transmembrane protein-43, titin, or the ryanodine receptor-2 gene should be screened for ARVD. Patients carrying a pathogenic variant in any of these genes should undergo annual cardiological investigations for cardiac function and arrhythmias.
致心律失常性右室心肌病（ARVD）是一种罕见的遗传性疾病，主要累及右心室。越来越多的证据表明，在某些情况下，ARVD是由基因中的突变引起的，这些基因也与原发性肌病有关。本综述概述了与肌病相关的ARVD以及如何对这些患者进行管理。
使用适当的检索词进行文献综述。
最常与ARVD相关的肌病是由结蛋白突变引起的肌原纤维肌病。仅在1例患者中，1型强直性肌营养不良中描述了ARVD。然而，有许多基因可导致肌病或ARVD。这些基因包括核纤层蛋白A/C、ZASP/密码子、跨膜蛋白-43、肌联蛋白和兰尼碱受体-2基因。与肌病相关的ARVD和与非肌病相关的ARVD的诊断和治疗相同。
对于因结蛋白、强直性肌营养不良蛋白激酶、核纤层蛋白A/C、ZASP/密码子、跨膜蛋白-43、肌联蛋白或兰尼碱受体-2基因突变导致原发性肌病的患者，应筛查ARVD。携带这些基因中任何一种致病变异的患者应每年进行心脏功能和心律失常的心脏检查。
