肥厚型心肌病并短QT间期患者一例——临床和分子遗传学分析  

Case study of hypertrophic cardiomyopathy with short QT interval——clinical and genetic analysis.

作　　者：俞建华[1] 周琼琼[1] 胡金柱[1] 周慧[1] 刘欣[1] 熊琴梅[1] 申阳[1] 刘秀霞[2] 陈静[1] 苏海[1] 程晓曙[1] 洪葵[1,2] 

机构地区：[1]南昌大学第二附属医院心内科,江西南昌330006 [2]江西省分子医学重点实验室,江西南昌330006

出　　处：《中国心脏起搏与心电生理杂志》2013年第2期111-114,共4页Chinese Journal of Cardiac Pacing and Electrophysiology

基　　金：教育部创新团基金(项目编号:IRT1141);国家自然科学基金(项目编号:81070148;81160023);教育部博士点基金(项目编号:20113601110002)

摘　　要：目的探讨国人肥厚型心肌病合并短QT间期患者临床和分子遗传学特征。方法收集肥厚型心肌病并短QT间期患者的临床资料和血样标本,利用DNA直接测序法对10个候选离子通道基因(SCN5A、HERG、KC-NQ1、KCNJ13、Kir2.1(KCNJ2)、KV4.2、KV4.3、Kir3.1、KV1.5及CACNA1C)的外显子,及外显子和内含子交界区进行测序,寻找基因变异,并分析其发生心源性猝死风险。结果收集到肥厚型心肌病并短QT间期患者1例,其父亲心源性猝死。心脏超声显示室间隔和左室后壁轻度增厚,左房轻度扩大。常规心电图显示QT间期缩短(QTc340 ms)和早期复极。Holter显示房性早搏、室性早搏。未发现10个候选基因的基因突变,发现4个基因多态性:即KCNQ1基因S546S(c.1638G>A);CACNA1C基因E1865K(c.5593G>A)、T1870M(c.5609C>T)及P1883P(c.5649A>G)。结论首次报道国人肥厚型心肌病合并短QT间期患者,未发现其与心脏钠通道、钾通道及钙通道主要编码基因的突变有关。结合个人临床表现和家族史,患者需要严密随访,预防心源性猝死发生。Objective To investigate clinical and genetic feature of Chinese patients with hypertrophic cardiomyopathy and short QT interval. Methods One patient with hypertrophic cardiomyopathy who present short QT interval was recrui- ted. Hypertension, coronary heart disease, electrolyte abnormality, drugs and other factors that might induce QT interval shorten were excluded. Clinical data and blood sample were collectd. The direct sequencing was used to screen SCN5A, HERG, KCNQ1, Kir2.1, KCNJ13, KV4.2, KV4.3, Kir3.1, KV1.5 and CACNA1C genes. All exons of the candidate genes were amplified by polymerase chain reaction（PCR） and analyzed by direct DNA sequencing. Gene variation was ver- ified as a mutation or a polymorphism when compared with the normal control. Result Echocardiography showed septam and left posterior wall were slightly thicker. Electrocardiogram demonstrated atrial or ventricular premature capture, QT in- terval 340 ms, early repolarization in lead I, aVL and V2-V6. Genetic testing was performed in the proband and no muta- tion was found in the candidate genes. However, four gene polymorphisms were found： S546S（ c. 1638G〉A） in KCNQI gene; E1865K（c. 5593G〉A） ,T1870M （c. 5609C〉T） and P1883P（c. 5649A〉G） in CACNA1C gene. Conclusion The direct evidence of the relationship between hypertrophic cardiomyopathy with short QT interval and mutations in genes encoding the cardiac sodium, potassium and calcium channel is not found in Chinese patient. Long term follow-up isrequired to evaluate the risk of sudden cardiac death in pa- tient with short QT interval and hypertrophic cardiomyopathy.

关 键 词：心血管病学 肥厚型心肌病 短QT间期 心源性猝死 基因突变 

分 类 号：R542.2[医药卫生—心血管疾病] R541.7[医药卫生—内科学]