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1. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Author

M Wilde, A, Semsarian, C, F Márquez, M, Sepehri Shamloo, A, J Ackerman, M, A Ashley, E, Sternick Eduardo, B, Barajas-Martinez, H, R Behr, E, R Bezzina, C, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, H Gollob, M, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, S Ware, J, S Winlaw, D, S Kaufman, E, Aiba, T, Bollmann, A, Choi, J, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, D Krahn, A, Mac Intyre, C, A Mackall, J, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, C Pereira, A, J Schwartz, P, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Back Sternick Eduardo, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz-Genga, Luciana Sacilotto, Eric Schulze-Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S Ware, David S Winlaw, Elizabeth S Kaufman, Takeshi Aiba, Andreas Bollmann, Jong-Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D Krahn, Ciorsti Mac Intyre, Judith A Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C Pereira, Peter J Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt-Hansen, Thomas Deneke, M Wilde, A, Semsarian, C, F Márquez, M, Sepehri Shamloo, A, J Ackerman, M, A Ashley, E, Sternick Eduardo, B, Barajas-Martinez, H, R Behr, E, R Bezzina, C, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, H Gollob, M, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, S Ware, J, S Winlaw, D, S Kaufman, E, Aiba, T, Bollmann, A, Choi, J, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, D Krahn, A, Mac Intyre, C, A Mackall, J, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, C Pereira, A, J Schwartz, P, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Back Sternick Eduardo, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz-Genga, Luciana Sacilotto, Eric Schulze-Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S Ware, David S Winlaw, Elizabeth S Kaufman, Takeshi Aiba, Andreas Bollmann, Jong-Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D Krahn, Ciorsti Mac Intyre, Judith A Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C Pereira, Peter J Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt-Hansen, and Thomas Deneke

Published
2022

2. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Author

Wilde, AAM, Semsarian, C, Márquez, MF, Sepehri Shamloo, A, Ackerman, MJ, Ashley, EA, Sternick, EB, Barajas-Martinez, H, Behr, ER, Bezzina, CR, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, MH, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, JS, Winlaw, DS, Kaufman, ES, Document Reviewers, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, AD, MacIntyre, C, Mackall, JA, Mont, L, Napolitano, C, Ochoa, JP, Peichl, P, Pereira, AC, Schwartz, PJ, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, M Wilde, A, Semsarian, C, F Márquez, M, Sepehri Shamloo, A, J Ackerman, M, A Ashley, E, Sternick Eduardo, B, Barajas-Martinez, H, R Behr, E, R Bezzina, C, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, H Gollob, M, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, S Ware, J, S Winlaw, D, S Kaufman, E, Aiba, T, Bollmann, A, Choi, J, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, D Krahn, A, Mac Intyre, C, A Mackall, J, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, C Pereira, A, J Schwartz, P, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, British Heart Foundation, Sir Jules Thorn Charitable Trust, Cardiology, and ACS - Heart failure & arrhythmias

Subjects
Cardiac & Cardiovascular Systems, Consensus, Asia, GENOTYPE-PHENOTYPE CORRELATION, Consensu, LONG-QT SYNDROME, CARDIOLOGY WORKING GROUP, 0903 Biomedical Engineering, HYPERTROPHIC CARDIOMYOPATHY SUSCEPTIBILITY, Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS), Physiology (medical), Atrial Fibrillation, Humans, Genetic Testing, GENOME-WIDE ASSOCIATION, 1102 Cardiorespiratory Medicine and Haematology, TERM-FOLLOW-UP, COPY NUMBER VARIATION, Science & Technology, POLYMORPHIC VENTRICULAR-TACHYCARDIA, SUDDEN UNEXPLAINED DEATH, OF-FUNCTION MUTATION, Latin America, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Document Reviewers, Human
Abstract

Genetic testing has advanced significantly since the publication of the 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies.1 In addition to single-gene testing, there is now the ability to perform whole-exome sequencing (WES) and whole-genome sequencing (WGS). There is growing appreciation of oligogenic disorders,2,3 the role of modifier genes,2 and the use of genetic testing for risk stratification, even in common cardiac diseases such as coronary artery disease or atrial fibrillation (AFib), including a proposal for a score awaiting validation.4 This document reviews the state of genetic testing at the present time, and addresses the questions of what tests to perform and when to perform them. It should be noted that, as articulated in a 1999 Task Force Document by the European Society of Cardiology (ESC) on the legal value of medical guidelines,5 ‘The guidelines from an international organization, such as the ESC, have no specific legal territory and have no legally enforcing character. Nonetheless, in so far as they represent the state-of-the-art, they may be used as indicating deviation from evidence-based medicine in cases of questioned liability’. In the case of potentially lethal and treatable conditions such as catecholaminergic polymorphic ventricular tachycardia (CPVT) or long QT syndrome (LQTS), it is the responsibility of the physician, preferably in conjunction with an expert genetics team, to communicate to the patient/family the critical importance of family screening, whether this be facilitated by cascade genetic testing or by broader clinical family screening

Published
2022
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3. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Author

Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, Sternick Eduardo B, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES, Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, Mac Intyre C, Mackall JA, Mont L, Napolitano C, Ochoa Juan P, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, and Deneke T

Abstract

Competing Interests: None declared.

Published
2022
Full Text
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