无肥厚变化的心肌病基因变异者整体纵向应变对病情发展的预测价值

Predictive value of global longitudinal strain in patients with cardiomyopathy without hypertrophic change but variants of susceptibility genes

目的探讨无肥厚变化的心肌病基因变异携带者的整体纵向应变对于病情发展的预测价值。方法选择65例疑似肥厚型心肌病(hypertrophic cardiomyopathy,HCM)但无肥厚变化的心肌病患者,检测其基因变异、整体纵向应变、左心室射血分数、舒张末期容量、收缩末期容量、室间隔厚度、左心室内径、左室舒张末内径等,分析HCM发生的风险因素。结果共发现16种基因的44种变异,其中以MYBPC3基因13659G>A变异最为常见(73.20%),MYH7基因13252C>T次之(31.25%)。MYBPC3基因13659位点GG基因型、整体纵向应变、顶端纵向应变与HCM的发生相关(P<0.05)。结论无肥厚变化的心肌病基因变异携带者整体纵向应变增加,对预测HCM的发生有重要的价值。

Objective To explore the predictive value of overall longitudinal strain for the development of cardiomyopathy without hypertrophic changes.Methods Sixty five patients with suspected hypertrophic cardiomyopathy(HCM)but without hypertrophic changes were selected.Genetic variant,overall longitudinal strain,left ventricular ejection fraction,end diastolic volume,end systolic volume,interventricular septal thickness,left ventricular diameter and end diastolic diameter were detected.The risk factors of HCM were analyzed.Results Forty four variants of 16 genes were identified,among which MYBPC313659G>A was the commonest(73.20%)and MYH713252C>T was the second(31.25%).MYBPC3 GG genotype,overall longitudinal strain and apical longitudinal strain were correlated with HCM(P<0.05).Conclusion The increase of longitudinal strain is of great value in predicting the occurrence of HCM.