Nigro Gerardo, Papa Andrea Antonio, Politano Luisa
Second University of Naples, Monaldi Hospital, Italy.
Acta Myol. 2012 Oct;31(2):110-6.
Myotonic dystrophy (Dystrophia Myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. It is a multisystemic disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, respiratory failure and cardiac conduction abnormalities. Classical DM, first described by Steinert and called Steinert's disease or DM1 (Dystrophia Myotonica type 1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat in the 3' untranslated region of DMPK gene on chromosome 19. This review will mainly focus on the various aspects of cardiac involvement in DM1 patients and the current role of cardiac pacing in their treatment.
强直性肌营养不良(肌强直性营养不良,DM)是成人期最常见的遗传性神经肌肉疾病。它是一种多系统疾病,主要累及心脏。强直性肌营养不良的核心特征是肌强直、肌肉无力、白内障、呼吸衰竭和心脏传导异常。经典的DM最早由施泰纳特描述,称为施泰纳特病或DM1(1型肌强直性营养不良),已被确定为一种常染色体显性疾病,与19号染色体上DMPK基因3'非翻译区CTG三核苷酸重复序列异常扩增有关。本综述将主要关注DM1患者心脏受累的各个方面以及心脏起搏在其治疗中的当前作用。