摘要
PRKAG2心脏综合征是近年新发现的一种常染色体显性遗传性心脏病,主要由于编码AMP激活蛋白激酶(AMP-activated protein kinase,AMPK)γ2亚单位的PRKAG2基因缺陷,典型的临床特征包括家族性心室预激、传导系统病变和心肌肥厚。目前,国内外关于该病的报道并不多见,其临床诊断和治疗尚无规范可循。为提高临床医生对PRKAG2心脏综合征的认识,对该综合征的临床研究现状作一综述。
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2010年第9期859-862,共4页
Chinese Journal of Cardiology
参考文献33
-
1Gollob MH,Green MS,Tang AS,et al.PRKAG2 cardiac syndrome: familial ventricular preexcitation,conduction system disease,and cardiac hypertrophy.Curr Opin Cardiol,2002,17:229-234.
-
2Fananapazir L,Tracy CM,Leon MB,et al.Electrophysiologic abnormalities in patients with hypertrophic cardiomyopathy: a consecutive analysis in 155 patients.Circulation,1989,80:1259-1268.
-
3MacRae CA,Ghaisas N,Kass S,et al.Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.J Clin Invest,1995,96:1216-1220.
-
4Lang T,Yu L,Tu Q,et al.Molecular cloning,genomic organization,and mapping of PRKAG2,a heart abundant gamma2subunit of 5:AMP-activated protein kinase,to human chromosome 7q36.Genomics ,2000,70:258-263.
-
5Arad M,Seidman CE,Seidman JG.AMP-activated protein kinase in the beart: role during health and disease.Circ Res,2007,100:474-488.
-
6Lage R,Diéguez C,Vidal-Puig A,et al.AMPK: a metabolic gauge regulating whole-body energy homeostasis.Trends Mol Med,2008,14:539-549.
-
7Gollob MH.Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.Biochem Soc Trans,2003,31:228-231.
-
8Arad M,Benson DW,Perez-Atayde AR,et al.Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.J Clin Invest,2002,109:357-362.
-
9Gollob MH,Seger JJ,Gollob TN,et al.Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.Circulation,2001,104:3030-3033.
-
10Patel VV,Arad M,Moskowitz IP,et al.Electrophysiologic characterization and postnatal development of ventricular preexcitation in a mouse model of cardiac hypertrophy and WolffParkinson-White syndrome.J Am Coll Cardiol,2003,42: 942-951.
二级参考文献74
-
1王志民,邹玉宝,宋雷,马爱群,刘唐威,谷惠敏,卢赛兰,武鹏翥,孙兆明,何国宝,张卫,张颖,沈丽,蔡玉岭,甄一松,刘延玲,惠汝太.超声心动图检查调查8080例成人肥厚型心肌病患病率[J].中华心血管病杂志,2004,32(12):1090-1094. 被引量:60
-
2张寄南,曹克将.肥厚型心肌病诊断与治疗——美国心脏病学学会/欧洲心脏病学学会、美国心脏病协会专家共识导读[J].中华心血管病杂志,2005,33(6):491-494. 被引量:35
-
3廖玉华,袁璟.扩张型心肌病分子免疫治疗靶点的研究进展[J].中华医学杂志,2006,86(17):1158-1160. 被引量:8
-
4Richardson P,McKenna W,Bristow M,et al.Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.Circulation,1996,93(5):841-842.
-
5Maron BJ,Towbin JA,Thiene G,et al.Contemporary definitions and classification of the cardiomyopathies:an American Heart Association Scientific Statement from the Council on Clinical Cardiology,Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.Circulation,2006,113(14):1807-1816.
-
6Elliott PM,Mckenna WJ.Natural history of hypertrophic cardiomyopathy.[EB/OL][2006-8-2].http://www.utdol.com/utd/content/topic.do?topicKey=myoperic/11502&type=A&selectedTitle=4~58.
-
7Cooper LT.Definition and classification of the cardiomyopathies.[EB/OL][2006-8-2].http://www.utdol.com.beckerproxy.wustl.edu/applica.../6085&type=A&selectedTitle=2~5.
-
8McKenna WJ.Genetics of hypertrophic cardiomyopathy.[EB/OL][2006-8-2].http://www.utdol.com/utd/content/topic.do?topicKey=myoperic/9673&type=A&selectedTitle=3~58.
-
9Poliac LC,Barron ME,Maron BJ.Hypertrophic cardiomyopathy.Anesthesiology,2006,104(1):183-192.
-
10Maron BJ,Seidman JG,Seidman CE.Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy.J Am Coll Cardiol,2004,44(11):2125-2132.
共引文献561
-
1陈敏,赵红梅.eGFR结合BUN对特发性扩张型心肌病患者预后的预测价值[J].慢性病学杂志,2019,0(12):1757-1761.
-
2吴国娣,章永根,石水梅.余杭地区饮酒与心房增大、心房颤动的流行病学调查[J].心脑血管病防治,2023,23(2):40-42.
-
3李世勋,周凡.芪苈强心胶囊联合琥珀酸美托洛尔缓释片对扩张型心肌病患者左室射血分数及运动耐力影响[J].社区医学杂志,2019,17(23):1491-1494. 被引量:9
-
4焦金英.参芪强心汤联合参麦注射液治疗心肌病39例[J].黑龙江中医药,2020(3):108-109.
-
5张乐方.基于护理程序的整体护理干预在扩张型心肌病患者中的应用观察[J].黑龙江中医药,2020(1):294-295. 被引量:3
-
6柯贤进,徐宏伟,曾彬.伊伐布雷定联合芪苈强心胶囊治疗老年缺血性心肌病的临床疗效及对炎症因子水平的影响[J].武汉大学学报(医学版),2019,40(6):1008-1012. 被引量:18
-
7关涛.大株红景天联合曲美他嗪治疗冠心病合并心衰临床研究[J].光明中医,2020,0(2):265-267. 被引量:4
-
8朱菲菲,朱向明,刘冬,刘表虎.数据挖掘技术在扩张型心肌病患者心脏构型超声数据模型中的初步研究[J].世界最新医学信息文摘,2020(97):46-48.
-
9邹长虹,黄燕,周琼,张荣成,安涛,吕蓉,张宇辉,张健.住院扩张型心肌病患者长期随访超声心动图预后分析[J].中华心力衰竭和心肌病杂志(中英文),2018,2(2):79-85. 被引量:6
-
10中国医师协会心力衰竭专业委员会,中华心力衰竭和心肌病杂志编辑委员会,张健,黄峻.中国肥厚型心肌病管理指南2017[J].中华心力衰竭和心肌病杂志(中英文),2017,1(2):65-86. 被引量:38
同被引文献16
-
1王幸,洪建凤,张春丽,许伟,徐国林,张仁坤.心尖肥厚型心肌病的心电图对比观察[J].实用心电学杂志,2004,13(4):262-263. 被引量:1
-
2张乾忠,马沛然,陈新民,杜军保,黄国英,陈树宝,汪翼,金梅,钱永如,田杰,于宪一.小儿心肌病诊治进展[J].中国实用儿科杂志,2006,21(2):81-92. 被引量:12
-
3洪葵,Antonio Oliva,程晓曙,Pedro Brugada,Joseph Brugada,Eduardo-back Sternick,Ramon Brugada.相同基因型而不同表现型的PRKAG2基因突变一家系报道[J].中华心血管病杂志,2007,35(6):552-554. 被引量:9
-
4张丽华,方理刚,程中伟,方全.回顾性调查线粒体疾病患者的心脏病变[J].中华心血管病杂志,2009,37(10):892-895. 被引量:8
-
5李威,刘少稳,张锋.碎裂QRS波——无创心电学的新指标[J].国际心血管病杂志,2009,36(6):355-358. 被引量:17
-
6杨承健,叶新和,徐欣,由春媛,厉志宏,胡大一.心尖肥厚型心肌病超声诊断特点及随访[J].中华内科杂志,2010,49(2):119-121. 被引量:19
-
7蔡迟,樊朝美.Danon病临床研究进展[J].心血管病学进展,2012,33(1):39-42. 被引量:8
-
8傅立军,陈树宝,邱文娟,郭颖,赵鹏军,章旭,李奋,黄美容.婴儿型糖原贮积病Ⅱ型的临床特点及其转归[J].中华医学杂志,2013,93(20):1567-1570. 被引量:7
-
9邵虹,马志玲,刘丽文.肥厚型心肌病心电图特征分析[J].临床心电学杂志,2015,24(3):177-180. 被引量:9
-
10中国成人肥厚型心肌病诊断与治疗指南[J].中华心血管病杂志,2017,45(12):1015-1032. 被引量:262
引证文献3
-
1孙凌,沈洁.儿童肥厚型心肌病的心电异常及处理[J].中国实用儿科杂志,2019,34(5):374-379.
-
2李思靓,李杨,张苗,刘会芳,李帅,郭雯,袁建军.同胞姐弟同患糖原累积型心肌病超声表现2例[J].中华超声影像学杂志,2020,29(4):365-366.
-
3吴迪,张凤梅,蔡颖,李宪波,王宁宁,宋爽,董宝镜,程艳红,张素丽,国士刚,孙雅逊.房室传导阻滞合并心肌肥厚为表现的PRKAG2心脏综合征家系报道1例[J].中华心律失常学杂志,2023,27(4):311-314.
-
1MichaelH.Gollob MartinS.Green AnthonyS.L.Tang RobertRoberts 时.PRKAG2心脏综合征:家族性心室预激、传导系统病变及心肌肥厚[J].世界医学杂志,2003,7(2):11-14.
-
2陈长源,郑兴.PRKAG2心脏综合征的分子遗传学病因及发病机制研究进展[J].国际心血管病杂志,2009,36(3):136-138. 被引量:1
-
3胡丹,刘洋.一个自发的新的基因突变证实与PRKAG2心脏综合征及早期发生心力衰竭相关[J].中国心脏起搏与心电生理杂志,2013(4):311-311.
-
4郭颖,黄晓红.肥厚型心肌病的生物标志物研究进展[J].中国分子心脏病学杂志,2016,16(5):1869-1872.
-
5夏思良,周建松,张小兵.以电风暴为初发表现无心肌梗死的冠心病一例[J].中华心律失常学杂志,2012,16(1):67-68.
-
6朱文根,王岑,洪葵.心源性猝死的遗传变异研究进展[J].临床心血管病杂志,2016,32(10):973-977. 被引量:3
-
7何旭.Brugada综合征1例[J].罕少疾病杂志,2002,9(4):39-40.
-
8张亚平,颜彦,胡嘉禄,巩雪,钱菊英,葛均波.发热伴反复短暂意识丧失[J].复旦学报(医学版),2011,38(6):543-545. 被引量:1
-
9傅春燕,周宪梁,王曙霞,惠汝太.AMP激活蛋白激酶与肥厚型心肌病关系的研究进展[J].中国分子心脏病学杂志,2007,7(2):121-124. 被引量:1
-
10廖进宝.全传导系统病变伴快心率依赖性阵发性完全性房室传导阻滞[J].心电学杂志,1990,9(4):245-246.