|
|
|
| The relationship between genetic test of sudden cardiac death related diseases and electrocardiology |
| ZHENG Wei-Ping, CHEN Hai-Feng, CHEN Feng, LI Feng, XIAO Jian-Min, LIN Kai-Yang |
| （Provincial Clinical Medical College of Fujian Medical University，Emergency Center of Fujian Province，Department of Electrocardiogram，Fujian Provincial Hospital，Fuzhou Fujian 350001，China） |
|
|
|
|
Abstract Genetic testing is the fourth generation laboratory biological detection technology after cytologic testing, zymologic testing and immunological testing. Unlike the other three generations of biological testing in a laboratory, genetic testing can be used in early diagnosis of a disease before any of the clinical symptoms occur. This technology provides favorable conditions for the prevention and treatment of clinical diseases especially fatal diseases. Genetic testing is also a premise for gene therapy in the future. The main causes pathogens of youth SCD are heritable cardiac channelopathies and heritable cardiomyopathies. Genetic testing is of significantly medical value for diagnosis, prevention and treatment of SCDrelated disease. However, more attention needs to be paid to the premises and conditions of genetic testing.This paper provides brief introduction to the development and application of genetic testing on SCDrelated diseases.
|
|
|
|
|
|
| [1] 冯作化.医学分子生物学[M].2版.北京：人民卫生出版社，2014：279-280.[2] Hua W，Zhang LF，Wu YF，et al.Incidence of sudden cardiac death in China: analysis of 4 regional populations[J].J Am Coll Cardiol，2009，54(12):1110-1118.[3] Chugh SS，Reinier K，Teodorescu C，et al.Epidemiology of sudden cardiac death: clinical and research implications[J]. Prog Cardiovasc Dis，2008，51(3):213-228.[4] 郭继鸿.中国心脏性猝死现状与防治[J].中国循环杂志，2013，28(5):323-326.[5] [JP4]孙雅逊，蒋晨阳，傅国胜.遗传性心律失常基因检测技术[J].中国实用内科杂志，2013，33(1):30-32.[6] GeisterferLowrance AA，Kass S，Tanigawa G，et al.A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain genemissense mutation[J].Cell，1990，62(5):999-1006.[7] Curran ME，Splawski I，Timothy KW，et al.A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome[J].Cell，1995，80(5)：795-803.[8] Wang F，Liu J，Hong L，et al.The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4G387R)[J].Heart Rhythm，2013，10(10):1500-1506.[9] 中华医学会心血管病学分会，中华心血管病杂志编辑委员会.遗传性心脏离子通道病与心肌病基因检测中国专家共识[J].中华心血管病杂志，2011，39(12):1073-1082.[10] 中华心血管病杂志编辑委员会心律失常循证工作组.遗传性原发性心律失常综合征诊断与治疗中国专家共识[J].中华心血管病杂志，2015，43(1):5-21.[11] Sun Y，Quan XQ，Fromme S，et al. A novel mutation in the KCNH2 gene associated with short QT syndrome[J]. J Mol Cell Cardiol，2011，50(3):433-441.[12] Marcus FI，McKenna WJ，Sherrill D，et al.Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task forcecriteria[J]. Circulation，2010，121(13):1533-1541.[13] Gersh BJ，Maron BJ，Bonow RO，et al.2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the AmericanCollege of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines[J].Circulation，2011，124(24):e783-831.[14] Ackerman MJ，Priori SG，Willems S，et al.HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies andcardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)[J].Heart Rhythm，2011，8(8):1308-1339.[15] Wang Q，Curran ME，Splawski I，et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias[J].Nat Genet，1996，12(1):17-23.[16] Wang Q，Shen J，Splawski I，et al.SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome[J]. Cell，1995，80(5):805-811.[17] Goldenberg I，Moss AJ.Long QT syndrome[J].J Am Coll Cardiol，2008，51(24):2291-2300.[18] Priori SG，Schwartz PJ，Napolitano C，et al.Risk stratification in the longQT syndrome[J]. N Engl J Med，2003，348(19):1866-1874.[19] 杨新春，石亮.Brugada综合征危险分层和诊治[J].中国实用内科杂志，2013，33(1):9-12.[20] Hassaguerre M，Chatel S，Sacher F，et al. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATPchannel[J].J Cardiovasc Electrophysiol，2009，20(1):93-98.[21] Burashnikov E，Pfeiffer R，BarajasMartinez H，et al. Mutations in the cardiac Ltype calcium channel associated with inherited Jwave syndromes andsudden cardiac death[J].Heart Rhythm，2010，7(12):1872-1882.[22] Priori SG，Napolitano C，Tiso N，et al.Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventriculartachycardia[J]. Circulation，2001，103(2):196-200.[23] Lahat H，Pras E，Olender T，et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamineinduced polymorphic ventricular tachycardia in Bedouin families from Israel[J].Am J Hum Genet，2001，69(6):1378-1384.[24] Gollob MH，Redpath CJ，Roberts JD.The short QT syndrome: proposed diagnostic criteria[J].J Am Coll Cardiol，2011，57(7):802-812.[25] Maron BJ，McKenna WJ，Danielson GK，et al.American College of Cardiology/European Society of Cardiology clinical expert consensus document onhypertrophic cardiomyopathy.A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the EuropeanSociety of Cardiology Committee for Practice Guidelines[J].J Am Coll Cardiol，2003，42(9):1687-1713.[26] Richard P，Charron P，Carrier L，et al.Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for amolecular diagnosis strategy[J].Circulation，2003，107(17):2227-2232.[27] Mogensen J，Murphy RT，Kubo T，et al.Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophiccardiomyopathy[J].J Am Coll Cardiol，2004，44(12):2315-2325.[28] Baig MK，Goldman JH，Caforio AL，et al.Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may representearly disease[J].J Am Coll Cardiol，1998，31(1):195-201.[29] Right ventricular cardiomyopathy and sudden death in young people[J]. N Engl J Med，1988，319(3):174-176.[30] 李翠兰.心电图与长QT综合征的诊断与分型[J].临床心电学杂志，2014，23(1):3-6. |
|
|
|
2015, Vol. 24 
