The value of cardiac genetic testing

被引：35

作者：

Ingles, Jodie ^{[1
,2
]}

Semsarian, Christopher ^{[1
,2
,3
]}

机构：

[1] Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW 2042, Australia

[2] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia

[3] Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia

来源：

TRENDS IN CARDIOVASCULAR MEDICINE | 2014年 / 24卷 / 06期

基金：

英国医学研究理事会; 澳大利亚国家健康与医学研究理事会;

关键词：

SUDDEN UNEXPLAINED DEATH; LONG-QT SYNDROME; CARDIOMYOPATHY MUTATION CARRIERS; HYPERTROPHIC CARDIOMYOPATHY; MOLECULAR AUTOPSY; DIAGNOSTIC YIELD; EXOME DATA; DISEASE; YOUNG; PHENOTYPE;

D O I：

10.1016/j.tcm.2014.05.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements. (C) 2014 Elsevier Inc. All rights reserved.

引用

收藏

页码：217 / 224

页数：8

相关论文

共 60 条

[11] Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment [J].

Das, Jipin K. ;

Ingles, Jodie ;

Bagnall, Richard D. ;

Semsarian, Christopher .

GENETICS IN MEDICINE, 2014, 16 (04) :286-293

[12] Causes of sudden cardiac death in young Australians [J].

Doolan, A ;

Langlois, N ;

Semsarian, C .

MEDICAL JOURNAL OF AUSTRALIA, 2004, 180 (03) :110-112

[13] Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy [J].

Erdmann, J ;

Daehmlow, S ;

Wischke, S ;

Senyuva, M ;

Werner, U ;

Raible, J ;

Tanis, N ;

Dyachenko, S ;

Hummel, M ;

Hetzer, R ;

Regitz-, V .

CLINICAL GENETICS, 2003, 64 (04) :339-349

[14] Ethical and Policy Issues in Genetic Testing and Screening of Children [J].

Fallat, Mary E. ;

Katz, Aviva L. ;

Mercurio, Mark R. ;

Moon, Margaret R. ;

Okun, Alexander L. ;

Webb, Sally A. ;

Weise, Kathryn L. ;

Saul, Robert A. ;

Braddock, Stephen R. ;

Chen, Emily ;

Freedenberg, Debra L. ;

Jones, Marilyn C. ;

Perrin, James M. ;

Tarini, Beth Anne ;

David, Karen L. ;

Bartoshesky, Louis E. ;

Anderson, Rebecca R. ;

Best, Robert G. ;

Hoffman, Jodi D. ;

Ito, Masamichi ;

Lemke, Amy A. ;

Murray, Mitzi L. ;

Sharp, Richard R. ;

Bhambhani, Vikas .

PEDIATRICS, 2013, 131 (03) :620-622

[15] A MOLECULAR-BASIS FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - A BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE MISSENSE MUTATION [J].

GEISTERFERLOWRANCE, AAT ;

KASS, S ;

TANIGAWA, G ;

VOSBERG, HP ;

MCKENNA, W ;

SEIDMAN, CE ;

SEIDMAN, JG .

CELL, 1990, 62 (05) :999-1006

[16] Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations [J].

Girolami, Francesca ;

Ho, Carolyn Y. ;

Semsarian, Christopher ;

Baldi, Massimo ;

Will, Melissa L. ;

Baldini, Katia ;

Torricelli, Francesca ;

Yeates, Laura ;

Cecchi, Franco ;

Ackerman, Michael J. ;

Olivotto, Iacopo .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2010, 55 (14) :1444-1453

[17] Natural history of genotype positive-phenotype negative patients with hypertrophic cardiomyopathy [J].

Gray, Belinda ;

Ingles, Jodie ;

Semsarian, Christopher .

INTERNATIONAL JOURNAL OF CARDIOLOGY, 2011, 152 (02) :258-259

[18] Toronto Hypertrophic Cardiomyopathy Genotype Score for Prediction of a Positive Genotype in Hypertrophic Cardiomyopathy [J].

Gruner, Christiane ;

Ivanov, Joan ;

Care, Melanie ;

Williams, Lynne ;

Moravsky, Gil ;

Yang, Hua ;

Laczay, Balint ;

Siminovitch, Katherine ;

Woo, Anna ;

Rakowski, Harry .

CIRCULATION-CARDIOVASCULAR GENETICS, 2013, 6 (01) :19-+

[19] Familial disease with a risk of sudden death: A longitudinal study of the psychological consequences of predictive testing for long QT syndrome [J].

Hendriks, Karin S. W. H. ;

Hendriks, Margriet M. W. B. ;

Birnie, Erwin ;

Grosfed, Frans J. M. ;

Wilde, Arthur A. M. ;

van den Bout, Jan ;

Smets, Ellen M. A. ;

van Tinteten, J. Peter ;

ten Kroode, Herman F. J. ;

van Langen, Irene M. .

HEART RHYTHM, 2008, 5 (05) :719-724

[20] High distress in parents whose children undergo predictive testing for long QT syndrome [J].

Hendriks, KSWH ;

Grosfeld, FJM ;

Wilde, AAM ;

van den Bout, J ;

van Langen, IM ;

van Tintelen, JP ;

ten Kroode, HFJ .

COMMUNITY GENETICS, 2005, 8 (02) :103-113

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