McBride Daniel, Deshmukh Amrish, Shore Supriya, Elafros Melissa A, Liang Jackson J
Electrophysiology Section, Division of Cardiology, Ann Arbor, MI 48109, USA.
Heart Failure Section, Division of Cardiology, University of Michigan, Ann Arbor, MI 48109, USA.
Rev Cardiovasc Med. 2022;23(4). doi: 10.31083/j.rcm2304126. Epub 2022 Apr 2.
Myotonic dystrophy is an autosomal dominant genetic disease of nucleotide expansion resulting in neuromuscular disease with two distinct subtypes. There are significant systemic manifestations of this condition including progressive muscular decline, neurologic abnormalities, and cardiac disease. Given the higher prevalence of cardiac dysfunction compared to the general population, there is significant interest in early diagnosis and prevention of cardiac morbidity and mortality. Cardiac dysfunction has an origin in abnormal and unstable nucleotide repeats in the and genes which have downstream effects leading to an increased propensity for arrhythmias and left ventricular systolic dysfunction. Current screening paradigms involve the use of routine screening electrocardiograms, ambulatory electrocardiographic monitors, and cardiac imaging to stratify risk and suggest further invasive evaluation. The most common cardiac abnormality is atrial arrhythmia, however there is significant mortality in this population from high-degree atrioventricular block and ventricular arrhythmia. In this review, we describe the cardiac manifestations of myotonic dystrophy with an emphasis on arrhythmia which is the second most common cause of death in this population after respiratory failure.
强直性肌营养不良症是一种由核苷酸扩增引起的常染色体显性遗传病，可导致神经肌肉疾病，有两种不同的亚型。这种疾病有显著的全身表现，包括进行性肌肉衰退、神经异常和心脏疾病。鉴于与普通人群相比，心脏功能障碍的患病率更高，人们对早期诊断以及预防心脏发病和死亡有着浓厚的兴趣。心脏功能障碍源于 和 基因中异常且不稳定的核苷酸重复序列，这些序列具有下游效应，导致心律失常和左心室收缩功能障碍的倾向增加。目前的筛查模式包括使用常规筛查心电图、动态心电图监测仪和心脏成像来分层风险并建议进一步的侵入性评估。最常见的心脏异常是房性心律失常，然而，该人群因高度房室传导阻滞和室性心律失常而有显著的死亡率。在这篇综述中，我们描述了强直性肌营养不良症的心脏表现，重点是心律失常，它是该人群仅次于呼吸衰竭的第二大常见死因。
