Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper

被引:106
作者
Gollob, Michael H. [1 ]
Blier, Louis [2 ]
Brugada, Ramon [3 ]
Champagne, Jean [2 ]
Chauhan, Vijay [4 ]
Connors, Sean [5 ]
Gardner, Martin [6 ]
Green, Martin S.
Gow, Robert [7 ]
Hamilton, Robert [8 ]
Harris, Louise [4 ]
Healey, Jeff S. [9 ]
Hodgkinson, Kathleen [10 ]
Honeywell, Christina [7 ]
Kantoch, Michael [11 ]
Kirsh, Joel [8 ]
Krahn, Andrew [14 ]
Mullen, Michelle [15 ]
Parkash, Ratika [6 ]
Redfearn, Damian [12 ]
Rutberg, Julie
Sanatani, Shubhayan [13 ]
Woo, Anna [4 ]
机构
[1] Univ Ottawa, Inst Heart, Inherited Arrhythmia Clin, Div Cardiol, Ottawa, ON K1Y 4W7, Canada
[2] Univ Laval, Quebec Heart Inst, Laval, PQ, Canada
[3] Univ Montreal, Montreal Heart Inst, Montreal, PQ, Canada
[4] Toronto Gen Hosp, Univ Hlth Networks, Toronto, ON, Canada
[5] Mem Univ Hlth Sci Ctr, St John, NF, Canada
[6] Dalhousie Univ, Queen Elizabeth II Hlth Sci Ctr, Halifax, NS, Canada
[7] Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON, Canada
[8] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[9] McMaster Univ, Hamilton, ON, Canada
[10] Mem Univ, St John, NF, Canada
[11] Univ Alberta Hosp, Edmonton, AB T6G 2B7, Canada
[12] Queens Univ, Kingston Gen Hosp, Kingston, ON, Canada
[13] Univ British Columbia, British Columbia Childrens Hosp, Vancouver, BC V5Z 1M9, Canada
[14] Univ Western Ontario, London Hlth Sci Ctr, London, ON, Canada
[15] Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1N 6N5, Canada
关键词
LONG-QT-SYNDROME; POLYMORPHIC VENTRICULAR-TACHYCARDIA; ST-SEGMENT ELEVATION; BUNDLE-BRANCH BLOCK; IMPLANTABLE CARDIOVERTER-DEFIBRILLATOR; FAMILIAL DILATED CARDIOMYOPATHY; ENZYME-REPLACEMENT THERAPY; CONDUCTION SYSTEM DISEASE; ANDERSON-FABRY-DISEASE; HYPERTROPHIC CARDIOMYOPATHY;
D O I
10.1016/j.cjca.2010.12.078
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The era of gene discovery and molecular medicine has had a significant impact on clinical practice. Knowledge of specific genetic findings causative for or associated with human disease may enhance diagnostic accuracy and Influence treatment decisions. In cardiovascular disease, gene discovery for inherited arrhythmia syndromes has advanced most rapidly. The arrhythmia specialist is often confronted with the challenge of diagnosing and managing genetic arrhythmia syndromes. There is now a clear need for guidelines on the appropriate use of genetic testing for the most common genetic conditions associated with a risk of sudden cardiac death. This document represents the first ever published recommendations outlining the role of genetic testing in various clinical scenarios, the specific genes to be considered for testing, and the utility of test results in the management of patients and their families.
引用
收藏
页码:232 / 245
页数:14
相关论文
共 108 条
[1]   The long QT syndrome: Ion channel diseases of the heart [J].
Ackerman, MJ .
MAYO CLINIC PROCEEDINGS, 1998, 73 (03) :250-269
[2]   Brugada syndrome - Report of the second consensus conference [J].
Antzelevitch, C ;
Brugada, P ;
Borggrefe, M ;
Brugada, J ;
Brugada, R ;
Corrado, D ;
Gussak, I ;
LeMarec, H ;
Nademanee, K ;
Riera, ARP ;
Shimizu, W ;
Schulze-Bahr, E ;
Tan, H ;
Wilde, A .
HEART RHYTHM, 2005, 2 (04) :429-440
[3]   Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-Segment elevation, short QT intervals, and sudden cardiac death [J].
Antzelevitch, Charles ;
Pollevick, Guido D. ;
Cordeiro, Jonathan M. ;
Casis, Oscar ;
Sanguinetti, Michael C. ;
Aizawa, Yoshiyasu ;
Guerchicoff, Alejandra ;
Pfeiffer, Ryan ;
Oliva, Antonio ;
Wollnik, Bernd ;
Gelber, Philip ;
Bonaros, Elias P., Jr. ;
Burashnikov, Elena ;
Wu, Yuesheng ;
Sargent, John D. ;
Schickel, Stefan ;
Oberheiden, Ralf ;
Bhatia, Atul ;
Hsu, Li-Fern ;
Haissaguerre, Michel ;
Schimpf, Rainer ;
Borggrefe, Martin ;
Wolpert, Christian .
CIRCULATION, 2007, 115 (04) :442-449
[4]   Prevalence of long-QT syndrome gene variants in sudden infant death syndrome [J].
Arnestad, Marianne ;
Crotti, Lia ;
Rognum, Torleiv O. ;
Insolia, Roberto ;
Pedrazzini, Matteo ;
Ferrandi, Chiara ;
Vege, Ashild ;
Wang, Dao W. ;
Rhodes, Troy E. ;
George, Alfred L., Jr. ;
Schwartz, Peter J. .
CIRCULATION, 2007, 115 (03) :361-367
[5]   Yield of Genetic Screening in Inherited Cardiac Channelopathies How to Prioritize Access to Genetic Testing [J].
Bai, Rong ;
Napolitano, Carlo ;
Bloise, Raffaella ;
Monteforte, Nicola ;
Priori, Silvia G. .
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2009, 2 (01) :6-15
[6]   Sudden infant death syndrome (SIDS) -: Standardised investigations and classification:: Recommendations [J].
Bajanowski, Thomas ;
Vege, Ashild ;
Byard, Roger W. ;
Krous, Henry F. ;
Arnestad, Marianne ;
Bachs, Liliana ;
Banner, Jytte ;
Blair, Peter S. ;
Borthne, Arne ;
Dettmeyer, Reinhard ;
Fleming, Peter ;
Gaustad, Peter ;
Gregersen, Markil ;
Grogaard, Jens ;
Holter, Ellen ;
Isaksen, Christina V. ;
Jorgensen, Jens V. ;
de Lange, Charlotte ;
Madea, Burkhard ;
Moore, Isabella ;
Morland, Jorg ;
Opdal, Siri H. ;
Rasten-Almqvisti, Petra ;
Schlaud, Martin ;
Sidebotham, Peter ;
Skullerud, Kari ;
Stoltenburg-Didinger, Gisela ;
Stray-Pedersen, Arne ;
Sveum, Lisbeth ;
Rognum, Torleiv O. .
FORENSIC SCIENCE INTERNATIONAL, 2007, 165 (2-3) :129-143
[7]   Arrhythmogenic right ventricular cardiomyopathy [J].
Basso, Cristina ;
Corrado, Domenico ;
Marcus, Frank I. ;
Nava, Andrea ;
Thiene, Gaetano .
LANCET, 2009, 373 (9671) :1289-1300
[8]   Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome [J].
Behr, E ;
Wood, DA ;
Wright, M ;
Syrris, P ;
Sheppard, MN ;
Casey, A ;
Davies, MJ ;
McKenna, W .
LANCET, 2003, 362 (9394) :1457-1459
[9]   Efficacy of quinidine in high-risk patients with Brugada syndrome [J].
Belhassen, B ;
Glick, A ;
Viskin, S .
CIRCULATION, 2004, 110 (13) :1731-1737
[10]  
Bennett MJ, 2001, CLIN CHEM, V47, P1145