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

Autor: 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
Přispěvatelé: 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, ACS - Heart failure & arrhythmias
Jazyk: angličtina
Rok vydání: 2022
Předmět:
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
Zdroj: EP Europace, 24(8), 1307-1367. Oxford University Press
Wilde, A A M, Semsarian, C, Márquez, M F, Shamloo, A S, Ackerman, M J, Ashley, E A, Sternick, E B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, MacIntyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa, J P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' 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 ', Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, vol. 24, no. 8, pp. 1307-1367 . https://doi.org/10.1093/europace/euac030
Document Reviewers 2022, ' 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 ', Heart Rhythm, vol. 19, no. 7, pp. e1-e60 . https://doi.org/10.1016/j.hrthm.2022.03.1225
Heart rhythm, 19(7), e1-e60. Elsevier
Wilde, A A M, Semsarian, C, Márquez, M F, Sepehri Shamloo, A, Ackerman, M J, Ashley, E A, Sternick Eduardo, B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, Mac Intyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' 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 ', Journal of Arrhythmia, vol. 38, no. 4, pp. 491-553 . https://doi.org/10.1002/joa3.12717
Journal of arrhythmia, 38(4), 491-553. Elsevier BV
e60
e1
ISSN: 1880-4276
1099-5129
1547-5271
1556-3871
Popis: 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
Databáze: OpenAIRE
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