Kashyap Niharika, Nikhanj Anish, Gagnon Luke R, Moukaskas Basel, Siddiqi Zaeem A, Oudit Gavin Y
Division of Cardiology, Department of Medicine, University of Alberta, 8440 112 Street NW, Edmonton, Alberta T6G 2R7, Canada.
Mazankowski Alberta Heart Institute, University of Alberta, 11220 83 Avenue NW, Edmonton, Alberta T6G 2J2, Canada.
Eur Heart J Case Rep. 2023 Jan 11;7(1):ytad013. doi: 10.1093/ehjcr/ytad013. eCollection 2023 Jan.
Heart disease is an under-recognized cause of morbidity and mortality in patients with Emery-Dreifuss muscular dystrophy (EDMD). Arrhythmias and conduction delays are highly prevalent and given the rarity of this disease the patient care process remains poorly defined.
This study closely followed four adult patients from the Neuromuscular Multidisciplinary Clinic (Alberta, Canada) that presented with X-linked recessive EDMD. Patients were assessed and managed on a case-by-case basis. Clinical status and cardiac function were assessed through clinical history, physical examination, and investigations (12-lead electrocardiogram, 24 hour Holter monitor, transthoracic echocardiogram, and plasma biomarkers). Conduction disease, requiring permanent pacemaker, was prevalent in all patients. With appropriate medical therapy over a median follow-up period five years the cardiac status was shown to have stabilized in all these patients.
We demonstrate the presentation of arrhythmias, conduction abnormalities, and chamber dilation in adult patients with X-linked EDMD. Cardiac medications and pacemaker therapy are shown to prevent adverse outcomes from these complications. Patients with EDMD are expected to develop heart disease early and prior to the development of an overt neuromuscular phenotype. These patients should be closely monitored in a multidisciplinary setting for effective management to improve their clinical outcomes.
心脏病是埃默里-德赖富斯肌营养不良症（EDMD）患者发病和死亡的一个未被充分认识的原因。心律失常和传导延迟非常普遍，鉴于这种疾病的罕见性，患者护理过程仍不明确。
本研究密切跟踪了加拿大艾伯塔省神经肌肉多学科诊所的4名成年男性患者，他们患有X连锁隐性EDMD。对患者进行了逐例评估和管理。通过临床病史、体格检查和检查（12导联心电图、24小时动态心电图监测、经胸超声心动图和血浆生物标志物）评估临床状态和心脏功能。所有患者中需要永久起搏器的传导疾病都很普遍。在中位随访期5年期间，通过适当的药物治疗证明所有这些患者的心脏状态已稳定。
我们展示了成年X连锁EDMD患者心律失常、传导异常和心腔扩张的表现。心脏药物和起搏器治疗可预防这些并发症的不良后果。预计EDMD患者会在明显的神经肌肉表型出现之前早期发生心脏病。这些患者应在多学科环境中密切监测，以进行有效管理，改善其临床结局。
