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
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F22%3A00083503" target="_blank" >RIV/00023001:_____/22:00083503 - isvavai.cz</a>
Result on the web
<a href="https://reader.elsevier.com/reader/sd/pii/S1547527122016976?token=78C1D83C80EDB570867453CF5CC8380CE6202E39A18F8392F8E2E882FEA00AA6EFCB78B7D5B145743A2EFC4B97D814F7&originRegion=eu-west-1&originCreation=20230111142353" target="_blank" >https://reader.elsevier.com/reader/sd/pii/S1547527122016976?token=78C1D83C80EDB570867453CF5CC8380CE6202E39A18F8392F8E2E882FEA00AA6EFCB78B7D5B145743A2EFC4B97D814F7&originRegion=eu-west-1&originCreation=20230111142353</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.hrthm.2022.03.1225" target="_blank" >10.1016/j.hrthm.2022.03.1225</a>
Alternative languages
Result language
angličtina
Original language name
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
Original language description
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 diseasesAnotace anglickyGenetic 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. 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, the role of modifier genes, 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. 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, ‘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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Heart rhythm
ISSN
1547-5271
e-ISSN
1556-3871
Volume of the periodical
19
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
60
Pages from-to
"E1"-"E60"
UT code for WoS article
000829061500001
EID of the result in the Scopus database
2-s2.0-85133272967