Is There a Role for Genetics in the Prevention of Sudden Cardiac Death?

被引：3

作者：

Faragli, Alessandro ^{[1
]}

Underwood, Katherine ^{[1
]}

Priori, Silvia G. ^{[1
,2
]}

Mazzanti, Andrea ^{[1
]}

机构：

[1] IRCCS Salvatore Maugeri Fdn, Mol Cardiol, Via Maugeri 10, I-27100 Pavia, Italy

[2] Univ Pavia, Dept Mol Med, Pavia, Italy

来源：

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY | 2016年 / 27卷 / 09期

关键词：

acquired cardiovascular diseases; genetic testing; inherited arrhythmia syndromes; preventive strategies; sudden cardiac death; LONG-QT-SYNDROME; IMPLANTABLE CARDIOVERTER-DEFIBRILLATOR; EXPERT CONSENSUS STATEMENT; GENOME-WIDE ASSOCIATION; RISK-FACTOR; VENTRICULAR-FIBRILLATION; INTERVAL PROLONGATION; ARRHYTHMIC EVENTS; EUROPEAN-SOCIETY; FAMILY-HISTORY;

D O I：

10.1111/jce.13028

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genetics for Sudden Cardiac Death. The identification of patients at risk for sudden cardiac death (SCD) is fundamental for both acquired cardiovascular diseases (such as coronary artery diseases, CAD) and inherited arrhythmia syndromes (such as the long-QT syndrome, LQTS). Genetics may play a role in both situations, although the potential to exploit this information to reduce the burden of SCD varies among these two groups. Concerning acquired cardiovascular diseases, which affect most of the general population, preliminary data suggest an association between genetics and the risk of dying suddenly. The maximal utility, instead, is reached in inherited arrhythmia syndromes, where the discovery of monogenic diseases such as LQTS tracked the way for the first genotype-phenotype correlations. The aim of this review is to provide a general overview focusing on the current genetic knowledge and on the present and future applicability for prevention in these two populations at risk for SCD.

引用

页码：1124 / 1132

页数：9

共 80 条

[1] Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam study [J].

Aarnoudse, Albert-Jan L. H. J. ;

Newton-Cheh, Christopher ;

de Bakker, Paul I. W. ;

Straus, Sabine M. J. M. ;

Kors, Jan A. ;

Hofman, Albert ;

Uitterlinden, Andre G. ;

Witteman, Jacqueline C. M. ;

Stricker, Bruno H. C. .

CIRCULATION, 2007, 116 (01) :10-16

[2] Cardiac channelopathies: Genetic and molecular mechanisms [J].

Abriel, Hugues ;

Zaklyazminskaya, Elena V. .

GENE, 2013, 517 (01) :1-11

[3]

Ackerman MJ, 2011, HEART RHYTHM, V8, P1308, DOI [10.1093/europace/eur245, 10.1016/j.hrthm.2011.05.020]

[4] Common Variants in Cardiac Ion Channel Genes Are Associated With Sudden Cardiac Death [J].

Albert, Christine M. ;

MacRae, Calum A. ;

Chasman, Daniel I. ;

VanDenburgh, Martin ;

Buring, Julie E. ;

Manson, Joann E. ;

Cook, Nancy R. ;

Newton-Cheh, Christopher .

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2010, 3 (03) :222-U22

[5] GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease [J].

Aouizerat, Bradley E. ;

Vittinghoff, Eric ;

Musone, Stacy L. ;

Pawlikowska, Ludmila ;

Kwok, Pui-Yan ;

Olgin, Jeffrey E. ;

Tseng, Zian H. .

BMC CARDIOVASCULAR DISORDERS, 2011, 11

[6] Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals [J].

Arking, Dan E. ;

Junttila, M. Juhani ;

Goyette, Philippe ;

Huertas-Vazquez, Adriana ;

Eijgelsheim, Mark ;

Blom, Marieke T. ;

Newton-Cheh, Christopher ;

Reinier, Kyndaron ;

Teodorescu, Carmen ;

Uy-Evanado, Audrey ;

Carter-Monroe, Naima ;

Kaikkonen, Kari S. ;

Kortelainen, Marja-Leena ;

Boucher, Gabrielle ;

Lagace, Caroline ;

Moes, Anna ;

Zhao, XiaoQing ;

Kolodgie, Frank ;

Rivadeneira, Fernando ;

Hofman, Albert ;

Witteman, Jacqueline C. M. ;

Uitterlinden, Andre G. ;

Marsman, Roos F. ;

Pazoki, Raha ;

Bardai, Abdennasser ;

Koster, Rudolph W. ;

Dehghan, Abbas ;

Hwang, Shih-Jen ;

Bhatnagar, Pallav ;

Post, Wendy ;

Hilton, Gina ;

Prineas, Ronald J. ;

Li, Man ;

Koettgen, Anna ;

Ehret, Georg ;

Boerwinkle, Eric ;

Coresh, Josef ;

Kao, W. H. Linda ;

Psaty, Bruce M. ;

Tomaselli, Gordon F. ;

Sotoodehnia, Nona ;

Siscovick, David S. ;

Burke, Greg L. ;

Marban, Eduardo ;

Spooner, Peter M. ;

Cupples, L. Adrienne ;

Jui, Jonathan ;

Gunson, Karen ;

Kesaniemi, Y. Antero ;

Wilde, Arthur A. M. .

PLOS GENETICS, 2011, 7 (06)

[7] MOLECULAR MECHANISM FOR AN INHERITED CARDIAC-ARRHYTHMIA [J].

BENNETT, PB ;

YAZAWA, K ;

MAKITA, N ;

GEORGE, AL .

NATURE, 1995, 376 (6542) :683-685

[8] Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction [J].

Bezzina, Connie R. ;

Pazoki, Raha ;

Bardai, Abdennasser ;

Marsman, Roos F. ;

de Jong, Jonas S. S. G. ;

Blom, Marieke T. ;

Scicluna, Brendon P. ;

Jukema, J. Wouter ;

Bindraban, Navin R. ;

Lichtner, Peter ;

Pfeufer, Arne ;

Bishopric, Nanette H. ;

Roden, Dan M. ;

Meitinger, Thomas ;

Chugh, Sumeet S. ;

Myerburg, Robert J. ;

Jouven, Xavier ;

Kaab, Stefan ;

Dekker, Lukas R. C. ;

Tan, Hanno L. ;

Tanck, Michael W. T. ;

Wilde, Arthur A. M. .

NATURE GENETICS, 2010, 42 (08) :688-U64

[9] Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population [J].

Brink, PA ;

Crotti, L ;

Corfield, V ;

Goosen, A ;

Durrheim, G ;

Hedley, P ;

Heradien, M ;

Geldenhuys, G ;

Vanoli, E ;

Bacchini, S ;

Spazzolini, C ;

Lundquist, AL ;

Roden, DM ;

George, AL ;

Schwartz, PJ .

CIRCULATION, 2005, 112 (17) :2602-2610

[10] Science and the Sources of Hype [J].

Caulfield, T. ;

Condit, C. .

PUBLIC HEALTH GENOMICS, 2012, 15 (3-4) :209-217

← 1 2 3 4 5 6 7 8 →