中文摘要：

目的探讨携带口肌球蛋白重链（MYH7）及心脏型肌球蛋白结合蛋白C（MYBPC3）基因突变的肥厚型心肌病患者的6年生存情况。方法对采用测序方法确定的携带MYH7及MYBPC3基因突变的70例肥厚型心肌病患者进行前瞻性的随访。结果平均随访时间为（5．8±1．8）年，期间共有14例患者死亡，其中MYH7突变患者10例（32．1％／1000人年，95％CI为12．5～51．5），MYBPC3突变患者4例（35．2％／1000人年，95％CI为13．9～68．9），两者比较差异无统计学意义（P〉o．05）。7例携带MYH7突变的患者发生猝死。基因突变的部位均位于MYH7基因的头部；而携带MYBPC3突变的患者均未发生猝死，两者比较差异有统计学意义（P〈0．01）。结论携带MYH7基因突变的肥厚型心肌病患者发病年龄和死亡年龄均较早，猝死发生率高。携带位于MYH7基因头部突变的肥厚型心肌病患者较杆部突变患者的左心室最大室壁厚度更厚，猝死发生率高，更容易发生心力衰竭。对肥厚型心肌病患者进行基因检查十分必要。

英文摘要：

Objective To investigate the 6-year survival rate of patients with hypertrophiccardio- myopathy（HCM） due to gene mutations of β myosin heavy chain（MYH7） and cardiac myosin binding protein C（MYBPC3）. Methods Gene mutations of MYH7 and MYBPC3 in 70 HCM patients were identified by sequencing during the prospective follow-up. Results The mean followup time was 5.8±1.8 years during which 14 patients died,of them,0 had MYH7 mutations and 4 had MYBPC3 mutations（P〉0.05）. Sudden death occurred in 7 patients with MYH7 mutations in the head while no sudden death occurred in those with MYBPC3 mutations（P〈0.01）. Conclusion MYH7 mutations and death occur in younger HCM patients with MYH7 mutations whose sudden death rate is high. The ventricular wall is thicker in HCM patients with MYH7 mutations in the head than in those with MYH7 mutations in the stem,which is easy to lead to heart failure. It is,thus,necessary to detect gene mutations in HCM patients.