摘要
目的探讨肥厚型心肌病(HCM)患者不同亚型的临床特征和预后差异,以及基因检测结果与患者预后的相关性。方法本研究是一项单中心队列研究,纳入2016~2023年期间于四川省人民医院就诊的275例HCM患者,终点事件为全因死亡。采用多因素Cox回归模型筛选死亡预测因素,生存时间采用Kaplan-Meier生存曲线分析。其中224例患者进行了全外显子组基因检测。结果275例HCM患者入院时年龄为(52.4±15.6)岁,62例(占22.5%)为梗阻性HCM患者,47例(占17.1%)为心尖肥厚型心肌病(ApHCM)患者。随访时间为(3.7±1.9)年,32例(占11.6%)患者死亡,年死亡率为3.11%。多因素Cox回归分析结果显示,首次就诊时左心室射血分数(LVEF)降低[风险比(HR)0.968,P=0.048]及应用螺内酯治疗(HR 3.408,P=0.035)是HCM患者全因死亡的独立预测因素。梗阻性HCM和非梗阻性HCM患者(P=0.757)、ApHCM与非ApHCM(P=0.436)患者的全因死亡率差异均无统计学意义;纽约心脏协会(NYHA)心功能分级为Ⅲ~Ⅳ级的HCM患者的全因死亡率显著高于心功能为Ⅰ~Ⅱ级的HCM患者(P=0.002);LVEF<55%组HCM患者的全因死亡率显著大于LVEF≥55%组(P=0.037)。224例HCM患者的基因检测结果显示,82例患者检测到致病或疑似致病基因变异,基因检测阳性率为36.6%(82/224),共检测到19个致病及疑似致病变异基因,其中,MYBPC3基因和MYH7基因的致病变异频率分别为12.9%(29/224)和11.6%(26/224)。结论LVEF降低及应用螺内酯治疗是HCM患者预后不良的独立预测因素。梗阻性HCM与ApHCM这两种亚型对患者的长期生存率无显著影响。基因变异阳性对HCM患者的长期生存率无显著影响。
Objective To investigate the difference in clinical features and prognosis of different subtypes of patients with hypertrophic cardiomyopathy(HCM),and the correlation between genetic detection and prognosis of patients.Methods This study was a single-center cohort study,involving 275 patients hospitalized between 2016 and 2023 in Sichuan People′s Hospital with the diagnosis of HCM,and the endpoint event was all-cause mortality(ACM).The multivariate Cox regression model was used to identify the predictors of ACM,and the survival time was analyzed by the Kaplan-Meier survival curve.Moreover,224 patients underwent whole exome genetic testing to evaluate the correlation between genetic detection and prognosis of patients with HCM.Results The admission age of the 275 HCM patients was(52.4±15.6)years,62 patients(22.5%)with obstructive HCM and 47 patients(17.1%)with apical HCM(ApHCM).During a follow-up of(3.7±1.9)years,32(11.6%)patients died,with an annual ACM rate of 3.11%.Multivariate cox regression analysis identified lower left ventricular ejection fraction(LVEF)[hazard ratio(HR)0.968,P=0.048]and spironolactone treatment(HR 3.408,P=0.035)at baseline as predictors of ACM in patients with HCM.There was no significant difference in ACM between patients with obstructive HCM and non-obstructive HCM(P=0.757),ApHCM and non-ApHCM(P=0.436).The ACM rate in HCM patients with New York Heart Association(NYHA)functional class Ⅲ or Ⅳ was significantly higher than that those with NYHA functional class Ⅰ or Ⅱ(P=0.002).The ACM rate in HCM patients with LVEF<55%was significantly higher than that with LVEF≥55%(P=0.037).The genetic test results of 224 patients with HCM showed that pathogenic or likely pathogenic gene mutations were detected in 82 patients,and the positive rate of gene detection was 36.6%.A total of 19 pathogenic or likely pathogenic variant genes were detected,among which MYBPC3 gene and MYH7 gene were the most reported with the frequencies of 12.9%(29/224)and 11.6%(26/224),respectively.Conclusion Lower LVEF and spironolactone therapy are independent predictors of prognosis in patients with HCM.The two subtypes of obstructive HCM and ApHCM had no significant effect on long-term survival.Positive gene mutation had no significant effect on long-term survival in patients with HCM.
作者
杨昕怡
席湖滔
马慧慧
侯媛
李小平
Yang Xinyi;Xi Huitao;Ma Huihui;Hou Yuan;Li Xiaoping(Department of Cardiology,Affiliated Hospital of Southwest Medical University,Luzhou 646000,China;Department of Cardiology,Sichuan People′s Hospital,Sichuan Academy of Medical Sciences,Chengdu 610000,China)
出处
《中华心力衰竭和心肌病杂志(中英文)》
2025年第2期109-120,共12页
Chinese Journal of Heart Failure and Cardiomyopathy
基金
成都市科技局-技术创新研发项目(2024-YF05-01820-SN)。
关键词
肥厚型心肌病
心尖肥厚型心肌病
梗阻性肥厚型心肌病
基因检测
预后
Hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy
Obstructive hypertrophic cardiomyopathy
Genetic testing
Prognosis
