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

Arthur A.M. Wilde, Christopher Semsarian, Manlio F. Márquez, Alireza Sepehri Shamloo, Michael J. Ackerman, Euan A. Ashley, Back Sternick Eduardo, Héctor Barajas-Martínez, Elijah R. Behr, Connie R. Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H. Gollob, Steven A. 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, Lluı́s Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C. Pereira, Peter J. Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt‐Hansen, Thomas Deneke

2022Journal of Arrhythmia60 citationsDOIOpen Access PDF

Abstract

This document addresses essential principles of genetic testing including modes of inheritance, different testing methodologies, and interpretation of variants. 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. A discussion of aortopathies and hyperlipidaemia is beyond the scope of this document.

Topics & Concepts

MedicineCatecholaminergic polymorphic ventricular tachycardiaGenetic testingInternal medicineCardiologyRyanodine receptor 2Ryanodine receptorCalciumCardiac electrophysiology and arrhythmiasCardiomyopathy and Myosin StudiesCardiovascular Effects of Exercise
European Heart Rhythm Association (<scp>EHRA</scp>)/Heart Rhythm Society (<scp>HRS</scp>)/Asia Pacific Heart Rhythm Society (<scp>APHRS</scp>)/Latin American Heart Rhythm Society (<scp>LAHRS</scp>) Expert Consensus Statement on the state of genetic testing for cardiac diseases | Litcius