作者
Arthur AM Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Eduardo Back Sternick, 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, Document Reviewers, Takeshi Aiba, Andreas Bollmann, Jong Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D Krahn, Ciorsti MacIntyre, Judith A Mackall, Lluís Mont, Carlo Napolitano, Juan Pablo Ochoa, Petr Peichl, Alexandre C Pereira, Peter J Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt-Hansen, Thomas Deneke
发表日期
2022/8/3
来源
Europace
卷号
24
期号
8
页码范围
1307-1367
出版商
Oxford University Press
简介
Purpose
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 …
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AAM Wilde, C Semsarian, MF Márquez, AS Shamloo… - Europace, 2022