赵昕　卜丽萍　彭娟　禹子清　徐化洁　樊冰　葛均波

(复旦大学附属中山医院心内科，上海　200032)



高危遗传性心血管病患者致病基因表达的测定

赵昕Δ卜丽萍Δ彭娟禹子清徐化洁樊冰葛均波

(复旦大学附属中山医院心内科，上海200032)

摘要目的： 测定高危遗传性心血管病患者致病基因的表达，并探讨其对高危室性心律失常的预测价值。方法： 采用二代高通量测序技术，基于高危遗传性心血管病相关基因芯片探针，对30例临床确诊为高危遗传性心血管病患者的致病基因进行检测。按是否发生恶性室性心律失常将患者分为两组，对比分析两组患者致病基因的表达特点。结果： 30例患者中，8例致病基因表达阳性，阳性率26.67%。其中高危室性心律失常事件组致病基因阳性率为20%(2/10)，对照组致病基因阳性率为30%(6/20)，组间差异无统计学意义。结论： 高危遗传性心血管病患者存在一定比例的致病基因阳性率，但致病基因表达情况对于此类患者发生高危室性心律失常的预测价值尚需进一步研究。

关键词高危遗传性心血管病；基因表达；心室颤动；室性心动过速；危险因素

Detection of the Pathogenic Gene Expression in Patients with High Risk Hereditary Cardiovascular Diseases

ZHAOXinΔBULipingΔPENGJuanYUZiqingXUHuajieFANBingGEJunbo

DepartmentofCardiology,ZhongshanHospital,FudanUniversity,Shanghai200032,China

AbstractObjective： To detect pathogenic gene expression in patients with high risk hereditary cardiovascular diseases and explore its predictive value for high risk ventricular arrhythmia.Methods： The expression of pathogenic genes in 30 patients with clinically diagnosed high risk hereditary cardiovascular diseases were detected by using second-generation high-throughput sequencing on the basis of gene chip probes associated with high risk hereditary cardiovascular diseases. The patients were divided into two groups by whether the malignant ventricular arrhythmia had happened. And gene expression features of pathogenic genes in the two groups were comparatively analyzed.Results： Among the 30 patients, there were 8 patients (positive rate 26.67%) with pathogenic genes. In ten cases with history of high risk ventricular arrhythmia, the pathogenic gene positive rate was 20%(2/10). And the pathogenic gene positive rate in control group was 30%(6/20). The difference between the two groups was not statistically significant.Conclusions： There is a certain positive rate of pathogenic genes in patients with high risk hereditary cardiovascular diseases. However, further researches are needed to confirm the predictive value of the pathogenic gene expression for high risk ventricular arrhythmia happened in these patients.

Key WordsHigh risk hereditary cardiovascular diseases;Gene expression;Ventricular fibrillation;Ventricular tachycardia;Risk factor

心脏性猝死(sudden cardiac death，SCD)是指在无致命性心脏病变的情况下，在短时间内发生意料之外的心脏原因的自然死亡。其中，心室颤动(ventricular fibrillation，VF)、室性心动过速(ventricular tachycardia，VT)等恶性室性心律失常所致的死亡占SCD的50%~70%[1]。在一些可能出现恶性室性心律失常事件的结构性或非结构性心脏病中，基因突变是重要的致病机制，此类疾病称为高危遗传性心血管病。……