Severity of cardiac conduction involvement and arrhythmias in myotonic dystrophy type 1 correlates with age and CTG repeat length
Severity of cardiac conduction involvement and arrhythmias in myotonic dystrophy type 1 correlates with age and CTG repeat length
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DOI：
10.1046/j.1540-8167.2002.00444.x
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发表时间：
2002-05-01
影响因子：
2.7
通讯作者：
Zipes, DP
中科院分区：
文献类型：
--
作者：
Groh, WJ;Lowe, MR;Zipes, DP
介绍：心肌病表现为传导障碍和心律失常是常见的神经系统疾病强直性肌营养不良症。我们研究了强直性肌营养不良心脏受累的严重程度是否与遗传异常胞嘧啶-胸腺嘧啶-鸟嘌呤（CTG）重复序列expansion.Methods和Results的严重程度相关：病史、体格检查、心电图评价和基因检测在强直性肌营养不良的临床诊断患者中进行。在385例患者中，342例通过CTG重复扩增确诊。肌功能障碍程度与年龄、CTG重复序列长度相关（r = 0.44，P < 0.001）。19例（5.6%）患者诊断为心律失常，诊断可能性与年龄（相对风险[RR] 2.2/10，95%置信区间[CI] 1.4 - 3.4，P = 0.001）和CTG重复长度（RR 2.9/500重复，95% CI 1.5 - 5.4，P = 0.001）相关。心电图异常222例（64.9%）。年龄、CTG重复长度和男性是与PR间期（r = 0.43，P < 0.001）和QRS时限（r = 0.32，P < 0.001）定量的ECG传导异常相关的因素。在321个记录中，95个（29.6%）的24小时动态ECG异常。与年龄相关的异常的存在（RR 1.5/10，95% CI 1.2 - 1.9，P < 0.001）和CTG重复长度（RR 1.6/500重复，95%置信区间1.1至2.2，P = 0.01）。强直性肌营养不良中骨骼肌和心肌病变的严重程度与年龄和CTG重复序列长度相关，提示引起时间依赖性退行性过程的类似机制。
Introduction: Cardiac myopathy manifesting with conduction disturbances and arrhythmias is common in the neurologic disease myotonic dystrophy. We studied whether the severity of cardiac involvement in myotonic dystrophy correlates with the severity of the genetic abnormality cytosine-thymine-guanine (CTG) repeat expansion.Methods and Results: History, physical examination, ECG evaluation, and genetic testing were performed in patients with a clinical diagnosis of myotonic dystrophy. In 342 of 385 patients, the diagnosis was confirmed by CTG repeat expansion. In these patients, the muscular disability severity correlated with age and CTG repeat length (r = 0.44, P < 0.001). An arrhythmia diagnosis was present in 19 (5.6%) patients with a likelihood of diagnosis correlating with age (relative risk [RR] 2.2 per decade, 95% confidence intervals [CI] 1.4 to 3.4, P = 0.001) and CTG repeat length (RR 2.9 per 500 repeats, 95% CI 1.5 to 5.4, P = 0.001). ECGs were abnormal in 222 (64.9%) of the patients. Age, CTG repeat length, and male gender were factors found to correlate with ECG conduction abnormalities quantitated by the PR interval (r = 0.43, P < 0.001) and QRS duration (r = 0.32, P < 0.001). A 24-hour ambulatory ECG was abnormal in 95 (29.6%) of 321 recordings. The presence of an abnormality correlated with age (RR 1.5 per decade, 95% CI 1.2 to 1.9, P < 0.001) and CTG repeat length (RR 1.6 per 500 repeats, 95% confidence intervals 1.1 to 2.2, P = 0.01).Conclusion: The severity of skeletal and cardiac myopathy in myotonic dystrophy correlates with age and CTG repeat length, suggesting a similar mechanism causing a time-dependent degenerative process.