Christensen Alex Hørby, Bundgaard Henning, Haunsøe Stig, Svendsen Jesper Hastrup
Hjertemedicinsk Afdeling B, Hjertecentret, Rigshospitalet, 2100 København Ø, Denmark.
Ugeskr Laeger. 2011 Feb 28;173(9):637-43.
Arrhythmogenic right ventricular cardiomyopathy is an inherited disease of the cardiomyocyte. The disease is diagnosed as a syndrome based on criteria that include ventricular arrhythmias, electrocardiographic findings, imaging, tissue characteristics and family history. An implantable cardioverter-defibrillator is generally recommended. Novel insight into the molecular genetic background has established that the disease may be associated with mutation in the genes encoding desmosomal proteins. Genetic testing is expected to facilitate the diagnostic workup and treatment of patients and their families.
致心律失常性右室心肌病是一种心肌细胞的遗传性疾病。该疾病根据包括室性心律失常、心电图表现、影像学、组织特征和家族史等标准被诊断为一种综合征。一般建议植入心脏复律除颤器。对分子遗传背景的新见解已证实，该疾病可能与编码桥粒蛋白的基因突变有关。基因检测有望促进对患者及其家族的诊断检查和治疗。
