The value of the 12-lead electrocardiogram in the early diagnosis of a family with Danon disease
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摘要: 目的:探讨Danon病家系中LAMP2突变基因患者的早期心电图特征。方法:纳入2014年1月就诊于我院的1个Danon病家系,收集所有家系成员的临床资料并绘制遗传图谱。在知情同意及自愿参与的前提下,采用12导联心电图对家系成员进行检查,选择Danon病家系中携带LAMP2突变基因的8例患者作为观察组,5例未携带LAMP2突变基因的正常人作为对照组。结果:8例观察组患者心电图均有异常改变,3例显示有典型的预激综合征表现(PR间期缩短、QRS波群宽大畸形、δ波),5例有非典型的异常改变,其中3例有明显的T波倒置,1例出现δ波并伴有PR间期缩短,1例T波偏低。观察组QT间期和QRS波时限较对照组明显延长,V1、V2导联的R波振幅显著高于对照组,差异有统计学意义(均P<0.05);T波改变(T波低平、T波倒置、T波双向)的发生率在两组中差异有统计学意义(P<0.05)。结论:Danon病患者早期心电图呈特征性改变,V1、V2导联的R波振幅明显增高、T波改变在可疑Danon病的早期诊断中可能会提供重要的诊断价值。Abstract: Objective: To investigate early electrocardiogram(ECG) characteristics of patients with LAMP2 mutation in the family with Danon disease.Method: One family with Danon disease was referred to the study,and the clinical data of all family members were collected together with genealogy.On the premise of informed consent and voluntary participation,family members were examined by 12-lead electrocardiogram.Eight patients with LAMP2 mutation gene in this family were selected as the observation group,and 5 normal people without LAMP2 mutation gene were selected as the control group.Result: All 8 patients in the observation group had abnormal ECG changes,3 patients showed typical manifestations of pre-excitation syndrome(shortened PR interval,large QRS wave group malformation,delta wave),5 patients had atypical abnormal changes,of which 3 patients had obvious T wave inversion,1 patient had delta wave with shortened PR interval,1 patient had low T wave.The QT interval and QRS duration in the observation group were significantly longer than those in the control group,and the Rwave amplitudes of lead V1 and V2 were significantly higher than those in the control group,with statistically significant differences(all P<0.05).The incidence of T-wave changes(T-wave low level,T-wave inversion,T-wave bidirectional)was statistically significant between the two groups(P<0.05).Conclusion: The early electrocardiogram of Danon patients presents characteristic changes.The R wave amplitude of V1 and V2 leads is significantly increased,and the T wave changes may provide important diagnostic value in the early diagnosis of suspected Danon disease.
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Key words:
- Danon disease /
- glycogen storage disease typeⅡb /
- electrocardiogram /
- cardiomyopathy
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