摘要
目的分析非梗阻性肥厚型心肌病(HCM)各临床亚型的临床及遗传学特征。方法该研究为队列研究。入选1999年1月至2019年4月在中国医学科学院阜外医院就诊的非梗阻性HCM患者。根据超声心动图所示心脏形态及功能特点将入选患者分为普通型、扩张型、限制型及射血分数降低型。记录入选患者的临床资料,并应用全外显子测序或Panel测序筛查8个肌小节致病基因。随访并记录心血管死亡终点事件。结果共入选非梗阻性HCM患者815例,其中限制型27例(3.3%),扩张型51例(6.3%),射血分数降低型30例(3.7%),普通型707例(86.7%)。815例患者中共704例进行了基因检测,其中299例(42.5%)患者携带至少1个肌小节基因致病突变,MYBPC3和MYH7分别占42.1%(126/299)和35.8%(107/299)。限制型的患者中66.7%(16/24)携带肌小节基因致病突变,较扩张型的36.4%(16/44)及普通型的41.5%(250/602)高(P均<0.05)。射血分数降低型患者中56.7%(17/30)携带肌小节基因致病突变,23.3%(7/30)携带多个肌小节突变,较限制型的8.3%(2/24)、扩张型的9.1%(4/44)及普通型的4.2%(24/577)更高(P均<0.001)。各临床亚型患者携带的突变基因类型均以MYH7及MYBPC3为主,各分型间差异无统计学意义(P均>0.05)。对815例患者中的703例进行了随访,随访时间2.9(1.4,4.0)年,共53例(7.5%)患者发生心血管死亡终点事件。普通型患者中5.0%(29/578)发生心血管死亡,限制型患者中13.0%(3/23)发生心血管死亡,扩张型患者中16.3%(7/43)发生心血管死亡,射血分数降低型患者中46.7%(14/30)发生心血管死亡。单因素Cox比例风险模型分析结果显示,限制型、扩张型及射血分数降低型患者的心血管死亡风险均高于普通型(P<0.001),但三种类型之间差异无统计学意义。多因素Cox比例风险模型分析结果显示,校正了性别、发病年龄、体重指数、高血压病史、冠心病病史、糖尿病病史后,限制型、扩张型和射血分数�
Objective To analyze the clinical and genetic characteristics of clinical subtypes of non-obstructive hypertrophic cardiomyopathy(HCM).Methods It was a cohort study.Patients with non-obstructive HCM admitted to Fuwai Hospital,Chinese Academy of Medical Sciences,from January 1999 to April 2019 were enrolled.According to the characteristics of cardiac morphology and function shown by echocardiography,the patients were divided into common type,dilated type,restricted type and reduced ejection fraction type.The clinical data of the patients were recorded,and 8 sarcomere pathogenic genes were screened by full exon sequencing or panel sequencing.Patienst were followed up and cardiovascular endpoint events were recorded.Results A total of 815 patients with non-obstructive HCM were enrolled,including 27(3.3%)restricted type,51(6.3%)dilated type,30(3.7%)reduced ejection fraction type and 707(86.7%)common type.A total of 704 out of 815 patients underwent genetic testing.Among them,299(42.5%)patients carried at least 1 sarcomere gene mutation.MYBPC3 and MYH7 mutation accounted for 42.1%(126/299)and 35.8%(107/299)respectively.66.7%(16/24)of the patients with restricted type carried sarcomere gene mutation,which was higher than that in patients with dilated type(36.4%(16/44))and in common type(41.5%(250/602),P=0.015).Among the patients with reduced ejection fraction,56.7%(17/30)patients carried sarcomere gene mutations,23.3%(7/30)carried multiple sarcomere mutations,which was higher than that in restricted type(8.3%(2/24)),in dilated type(9.1%(4/44))and in common type 4.2%((24/577),P<0.001).MYH7 and MYBPC3 were the main mutation gene types of all clinical subtypes,and the genotypes were similar among groups(all P>0.05).Seven hundred and three out 815 patients were followed up for 2.9(1.4,4.0)years.There were 53(7.5%)cardiovascular death.Cardiovascular death occurred in 5.0%(29/578)patients with common type,13.0%(3/23)patients with restricted type,16.3%(7/43)patients with dilated type and 46.7%(14/30)patients with decreased ej
作者
张沫
孙筱璐
吴桂鑫
王东
王丽梅
王继征
康连鸣
宋雷
Zhang Mo;Sun Xiaolu;Wu Guixin;Wang Dong;Wang Limei;Wang Jizheng;Kang Lianming;Song Lei(Department of Cardiomyopathy,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China;State Key Laboratory of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China)
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2021年第6期593-600,共8页
Chinese Journal of Cardiology
基金
国家自然科学基金(81470380)。
关键词
心肌病
肥厚性
预后
遗传学
临床分型
Cardiomyopathy,hypertrophic
Prognosis
Genetics
Clinical classification
