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目的探讨家族性肥厚型心肌病(hypertrophic cardiomyopathy,HCM)肌小节基因突变携带者的早期心电图特征。方法携带肌小节突变基因但无左心室肥厚的HCM一级亲属34例为基因阳性表型阴性组(G+/P-组),未携带肌小节突变基因的亲属43例为对照组,比较2组经胸12导联心电图和超声心动图指标;绘制ROC曲线,计算R波诊断HCM肌小节基因突变携带者的效能。结果G+/P-组和对照组收缩压[(110±10)、(109±11)mm Hg]、舒张压[(75±8)、(76±8)mm Hg]、心率[(74±13)、(73±11)次/min]、左心室最大室壁厚度[(9.4±1.1)、(8.9±1.0)mm]、左室射血分数[(59±4)%、(59±4)%]及舒张早期血流速度峰值/舒张晚期血流速度峰值(E/A)(1.5±0.5、1.7±0.6)比较差异均无统计学意义(P>0.05);G+/P-组和对照组P波时间[(81±16)、(80±18)ms]、PR间期[(138±15)、(145±18)ms]、QRS间期[(88±13)、(90±9)ms]、T波时间[(186±33)、(182±25)ms]、QT间期[(381±27)、(372±33)ms]及QTc间期[(406±21)、(404±17)ms]比较差异均无统计学意义(P>0.05);G+/P-组V1导联R波(RV_1)振幅[(0.57±0.48)mV]、V2导联R波(RV_2)振幅[(0.99±0.59)mV]、RV_1+RV_2+RV_3振幅之和[(2.71±1.53)mV]均高于对照组[(0.26±0.20)、(0.63±0.41)、(1.84±1.01)mV](P<0.05);G+/P-组和对照组RV_3[(1.15±0.60)、(0.96±0.50)mV]、RV4[(1.46±0.66)、(1.40±0.54)mV]、RV5[(1.33±0.47)、(1.32±0.46)mV]、RV6[(1.11±0.41)、(1.07±0.28)mV]及SV1+RV5振幅[(2.18±0.65)、(2.29±0.65)mV]比较差异均无统计学意义(P>0.05);RV_1诊断HCM肌小节基因突变携带者的AUC为0.721(95%CI:0.602~0.840,P=0.001),最佳截断值为0.425mV,灵敏度为50.0%,特异度为88.4%;RV_2诊断HCM肌小节基因突变携带者的AUC为0.714(95%CI:0.593~0.835,P=0.000),最佳截断值为0.825mV,灵敏度为64.7%,特异度为81.4%。结论家族性HCM肌小节基因突变携带者早期心电图呈特征性改变,表现为RV_1、RV_2以及RV_1+RV_2+RV_3振幅之和均明显增高,且早于心肌肥厚的形态学改变,RV_1和RV_2在诊断HCM肌小节基因突变携带者中有一定参考价值。
Objective To investigate the characteristics of early electrocardiogram (ECG) in carriers of the gene mutation of muscle in familial hypertrophic cardiomyopathy (HCM). Methods Forty-three HCM first-degree relatives with the mutation of muscle segment but no left ventricular hypertrophy were negative in the positive group (G + / P-group), and 43 relatives without the mutation in the muscle segment were used as the control group. Transthoracic 12-lead electrocardiogram and echocardiographic parameters; ROC curve was drawn to calculate the R wave diagnostic efficiency of HCM muscle gene mutation carriers. Results Compared with the control group, systolic blood pressure (110 ± 10), (109 ± 11) mm Hg, diastolic blood pressure [(75 ± 8), (76 ± 8) mm Hg], heart rate (59 ± 4)%, (59 ± 4)%, respectively, compared with control group (73 ± 11) / min, (P> 0.05). There was no significant difference between the peak value of early diastolic flow velocity and the peak of early diastolic flow velocity (E / A) (1.5 ± 0.5, 1.7 ± 0.6) (81 ± 16), (80 ± 18) ms], PR interval [(138 ± 15), (145 ± 18) ms], QRS interval [(88 ± 13), 90 ± 9) ms], T wave time (186 ± 33), (182 ± 25) ms], QT interval [(381 ± 27), (372 ± 33) ms] (P0.05). The amplitude of RV_1 (V1.57 ± 0.48) mV in V1 lead of G + / P- group [(0.57 ± 0.48) mV], V2 lead R The amplitude of RV_2 [(0.99 ± 0.59) mV] and the amplitude of RV_1 + RV_2 + RV_3 [(2.71 ± 1.53) mV] were significantly higher than those of the control group (0.26 ± 0.20, 0.63 ± 0.41, ± 1.01) mV] (P <0.05); RV_3 [(1.15 ± 0.60), (0.96 ± 0.50) mV] and RV4 [(1.46 ± 0.66) and (1.40 ± 0.54) mV] in G + / P- , RV5 [(1.33 ± 0.47), (1.32 ± 0.46) mV], RV6 [(1.11 ± 0.41) , (1.07 ± 0.28) mV] and SV1 + RV5 amplitude [(2.18 ± 0.65) and (2.29 ± 0.65) mV] respectively. There was no significant difference between RV1 and RV1 The AUC was 0.721 (95% CI: 0.602-0.840, P = 0.001). The best cutoff value was 0.425mV, the sensitivity was 50.0% and the specificity was 88.4%. The AUC of RV2 gene mutation in HCM muscle segment was 0.714 95% CI: 0.593 ~ 0.835, P = 0.000). The best cutoff was 0.825mV, the sensitivity was 64.7% and the specificity was 81.4%. CONCLUSION: The early electrocardiogram changes of HCM carriers in patients with familial HCM showed characteristic changes in the amplitude of RV_1, RV_2 and RV_1 + RV_2 + RV_3, which were earlier than that of myocardial hypertrophy. The changes of RV_1 and RV_2 in diagnosis HCM sarcomere gene mutation carriers have a certain reference value.