强直性肌营养不良6例心脏表现及文献复习

Cardiac Manifestations of 6 Cases of Myotonic Dystrophy and Literature Review

目的:强直性肌营养不良是一类罕见的由核苷酸序列不稳定扩增导致的常染色体显性遗传性疾病。本文旨在就强直性肌营养不良患者的心脏受累情况进行分析,以提高对该类疾病临床表现的认知和标准化的诊断思路。方法:本研究收集了北京大学第三医院2012年1月至2019年1月诊断的6例强直性肌营养不良患者。通过临床相关检查包括心电图及24小时动态心电图、超声心动图、肌酸激酶的检测、肌电图检查、肌肉活检病理检查(常规染色、免疫组化染色、电镜检查等)了解患者心脏受累情况。结果:临床表现及心脏基础疾病:6例患者中4例首发症状表现为进行性四肢无力;1例既往有高血压、陈旧性心肌梗死、阵发性心房颤动病史;2例存在间断心悸伴头晕。电生理检查提示,4例患者合并心律失常或传导阻滞。心脏结构方面:除1例患者外余均未见心脏结构明显异常;心脏功能方面:5例患者左心室收缩功能均正常,但3例患者存在舒张功能减退。6例患者均予改善代谢、营养肌肉等对症支持治疗后离院。结论:强直性肌营养不良患者易合并心脏受累,主要表现为心律失常及传导系统阻滞。应加强对此类患者的健康宣教,定期进行全面的心脏筛查,及早发现心脏异常,预防猝死的发生。

Objectives: Myotonic dystrophy is a rare group of autosomal dominant hereditary diseases caused by unstable amplification of nucleotide sequences. This article intends to analyze the cardiac involvement of patients with myotonic dystrophy, in order to improve the cognition of the clinical manifestations of this type of disease and standardize the diagnostic workflows.Methods: This study included 6 patients with myotonic dystrophy diagnosed in Peking University Third Hospital from 2012 to 2019. Clinical related examinations including electrocardiogram and ambulatory electrocardiogram, echocardiography,creatine kinase, electromyography, pathological examination of muscle biopsy(general staining, immunohistochemistry staining and electron microscopy, etc.) were performed to evaluate the cardiac involvement of these patients.Results: Clinical manifestations and underlying cardiac diseases were as follows: 4 out of the 6 patients had progressive limbs weakness as the first symptom;1 patient had a history of hypertension, old myocardial infarction, and paroxysmal atrial fibrillation;2 patients had intermittent palpitations with dizziness. Electrophysiological examination showed that 4 patients had arrhythmia or conduction block. Except for case 5, there was no obvious abnormality on cardiac structure in this patient cohort;left ventricular systolic function was normal, but the diastolic function was decreased in 3 cases. All 6 patients were discharged from the hospital after receiving symptomatic relief and supportive treatment such as medications for improving metabolism and nourishing muscles.Conclusions: Patients with myotonic dystrophy are prone to be complicated with cardiac abnormalities, mainly manifested as arrhythmia and conduction system disorders. Health education for such patients should be strengthened, and comprehensive heart screening should be carried out on a regular basis to timely detect the cardiac abnormalities in these patients.