Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, No. 20, 3rd section, South Renmin Road, Chengdu, 610041, Sichuan, China.
West China Medical School of Sichuan University, Chengdu, Sichuan, China.
Orphanet J Rare Dis. 2022 Aug 20;17(1):320. doi: 10.1186/s13023-022-02473-9.
Duchenne muscular dystrophy (DMD) is a clinically common X-linked recessive myopathy, which is caused by mutation of the gene encoding dystrophin on chromosome Xp21. The onset of heart injury in children with DMD is inconspicuous, and the prognosis is poor once it develops to the stage of heart failure. Cardiovascular complications remain an important cause of death in this patient population. At present, population and animal studies have suggested that Electrocardiogram (ECG) changes may be the initial manifestation of cardiac involvement in children with DMD. Relevant clinical studies have also confirmed that significant abnormal ECG changes already exist in DMD patients before cardiomegaly and/or LVEF decrease. With increases in age and decreases in cardiac function, the proportion of ECG abnormalities in DMD patients increase significantly. Some characteristic ECG changes, such as ST-segment changes, T wave inversion, Q wave at the inferolateral leads, LBBB and SDANN, have a certain correlation with the indexes of cardiac remodeling or impaired cardiac function in DMD patients, while VT and LBBB have demonstrated relatively good predictive value for the occurrence of long-term DCM and/or adverse cardiovascular events or even death in DMD patients. The present review discusses the electrocardiographic features in children with DMD.
杜氏肌营养不良症（DMD）是一种常见的临床 X 连锁隐性肌病，由染色体 Xp21 上编码肌营养不良蛋白的基因突变引起。患有 DMD 的儿童的心脏损伤发病隐匿，一旦发展到心力衰竭阶段，预后较差。心血管并发症仍然是该患者群体死亡的重要原因。目前，人群和动物研究表明，心电图（ECG）改变可能是 DMD 儿童心脏受累的初始表现。相关临床研究也证实，在心脏扩大和/或左心室射血分数（LVEF）降低之前，DMD 患者已经存在明显的异常心电图改变。随着年龄的增长和心功能的下降，DMD 患者的心电图异常比例显著增加。一些特征性的心电图改变，如 ST 段改变、T 波倒置、下外侧导联的 Q 波、左束支传导阻滞和 SDANN，与 DMD 患者的心脏重构或心功能受损的指标有一定的相关性，而 VT 和 LBBB 对 DMD 患者发生长期 DCM 和/或不良心血管事件甚至死亡具有较好的预测价值。本综述讨论了 DMD 患儿的心电图特征。
