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
File(s)1-s2.0-S1547527122016976-main.pdf (5.37 MB)
Published version
OA Location
Author(s)
Wilde, Arthur AM
Semsarian, Christopher
Márquez, Manlio F
Sepehri Shamloo, Alireza
Ackerman, Michael J
Type
Journal Article
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
Date Issued
2022-07-01
Date Acceptance
2022-03-25
Citation
Heart Rhythm, 2022, 19 (7), pp.e1-e60
ISSN
1547-5271
Publisher
Elsevier
Start Page
e1
End Page
e60
Journal / Book Title
Heart Rhythm
Volume
19
Issue
7
Copyright Statement
© the European Society of Cardiology, the Heart Rhythm Society, the Asia Pacific Heart
Rhythm Society, and the Latin American Heart Rhythm Society, 2022 This is an open access article
under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Rhythm Society, and the Latin American Heart Rhythm Society, 2022 This is an open access article
under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Sponsor
British Heart Foundation
Sir Jules Thorn Charitable Trust
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/35390533
PII: S1547-5271(22)01697-6
Grant Number
RE/18/4/34215
21 JTA
Subjects
Asia
Atrial Fibrillation
Consensus
Genetic Testing
Humans
Latin America
Document Reviewers
Humans
Atrial Fibrillation
Consensus
Latin America
Asia
Genetic Testing
Cardiovascular System & Hematology
0903 Biomedical Engineering
1102 Cardiorespiratory Medicine and Haematology
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2022-04-04