比较携带MYH7基因突变和携带MYBPC3基因突变的肥厚型心肌病患者临床特点及预后

Comparison of the Clinical Characteristics and Prognosis of Patients with Hypertrophic Cardiomyopathy with MYH7 Gene Mutation and MYBPC3 Gene Mutation

目的观察比较携带MYH7基因突变和携带MYBPC3基因突变的肥厚型心肌病(HCM)患者临床表型及预后特点。方法回顾性分析在阜外医院就诊的203例肥厚型心肌病患者的临床资料,并对其进行随访的结果进行分析。结果携带MYH7突变的HCM患者入组年龄(42.4±14.8 vs.49.8±14.0,P=0.0003)和确诊年龄(39.4±15.1 vs.46.8±14.3,P=0.0005)较携带MYBPC3突变的患者轻,梗阻发生率(53.6%vs.29.0%,P=0.005)较携带MYBPC3突变患者高。在随访期间,携带MYBPC3突变的患者全因死亡14例,其中心血管死亡12例。携带MYH7突变患者全因死亡10例,其中心血管死亡9例。统计学显示两者全因死亡比例(P=0.27)和心血管死亡比例(P=0.25)无显著差异。结论携带MYH7突变的HCM患者确诊年龄较轻,梗阻发生率较高,预后分析全因死亡率和心血管死亡率事件没有显著性差异。

Objective To compare the clinical phenotype and prognosis of patients with hypertrophic cardiomyopathy（HCM） with MYH7 gene mutation and MYBPC3 gene mutation. Methods The clinical data of 203 HCM patients in Fuwai Hospital were analyzed retrospectively. Results The incorporated age of HCM patients with the MYH7 mutation（42.4±14.8 vs. 49.8±14.0, P =0.0003）and diagnostic age（39.4±15.1 vs. 46.8±14.3, P=0.0005）compared with patients with MYBPC3 mutation were younger. Obstruction incidence（53.6% vs. 29%, P=0.005） compared with MYBPC3 mutation patients was higher. During the follow-up period, 14 patients with MYBPC3 mutation were died, including 12 cases of cardiovascular death, 7 cases of sudden death, 5 cases of heart failure and 1 cases of lung cancer. 10 patients with MYH7 mutations were died, including 9 cardiovascular deaths, 4 sudden deaths, 3 deaths of heart failure, 2 stroke deaths, and 1 lung cancer death. Statistics showed that there was no significant difference in the proportion of total cause of death（P=0.27） and the ratio of cardiovascular death（P=0.25）. Conclusion HCM patients with MYH7 mutation have a younger diagnosis age and a higher incidence of obstruction. There is no significant difference in all-cause mortality and cardiovascular mortality.