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

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...

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Veröffentlicht in:Journal of arrhythmia 2022-08, Vol.38 (4), p.491-553
Hauptverfasser: Wilde, Arthur A. M., Semsarian, Christopher, Márquez, Manlio F., Sepehri Shamloo, Alireza, Ackerman, Michael J., Ashley, Euan A., Sternick Eduardo, Back, Barajas‐Martinez, Héctor, Behr, Elijah R., Bezzina, Connie R., Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H., Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz‐Genga, Martín, Sacilotto, Luciana, Schulze‐Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S., Winlaw, David S., Kaufman, Elizabeth S., Aiba, Takeshi, Bollmann, Andreas, Choi, Jong‐Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D., Mac Intyre, Ciorsti, Mackall, Judith A., Mont, Lluís, Napolitano, Carlo, Ochoa Juan, Pablo, Peichl, Petr, Pereira, Alexandre C., Schwartz, Peter J., Skinner, Jon, Stellbrink, Christoph, Tfelt‐Hansen, Jacob, Deneke, Thomas
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Sprache:eng
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Zusammenfassung: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. Additionally, the document presents the state of genetic testing for inherited arrhythmia syndromes, cardiomyopathies, sudden cardiac death (SCD), congenital heart disease (CHD), coronary artery disease, and heart failure. The writing committee recognizes that the feasibility of genomic testing by gene panel testing or by WES or WGS depends on the availability of genomic technology and on regional reimbursement policy. [...]the recommendation ‘should do this’ can be read as ‘should do this when available’. Table 2 Relevant clinical practice documents or guidelines Title Publication year Consensus documents/guidelines of scientific societies APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families 6 2021 HRS/EHRA/APHRS/LAHRS Expert Consensus Statement on Catheter Ablation of Ventricular Arrhythmias 7 2020 Genetic Testing for Inherited Cardiovascular
ISSN:1880-4276
1883-2148
DOI:10.1002/joa3.12717