EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_C12E0FE39170
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Journal
European journal of human genetics
Author(s)
Hayesmoore J.B., Bhuiyan Z.A., Coviello D.A., du Sart D., Edwards M., Iascone M., Morris-Rosendahl D.J., Sheils K., van Slegtenhorst M., Thomson K.L.
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
09/2023
Peer-reviewed
Oui
Volume
31
Number
9
Pages
1003-1009
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure. Making a genetic diagnosis can inform the management of patients and their at-risk relatives and, as such, molecular genetic testing is now considered an integral component of the clinical care pathway. However, ICAs are characterised by high genetic and allelic heterogeneity, incomplete / age-related penetrance, and variable expressivity. Therefore, despite our improved understanding of the genetic basis of these conditions, and significant technological advances over the past two decades, identifying and recognising the causative genotype remains challenging. As clinical genetic testing for ICAs becomes more widely available, it is increasingly important for clinical laboratories to consolidate existing knowledge and experience to inform and improve future practice. These recommendations have been compiled to help clinical laboratories navigate the challenges of ICAs and thereby facilitate best practice and consistency in genetic test provision for this group of disorders. General recommendations on internal and external quality control, referral, analysis, result interpretation, and reporting are described. Also included are appendices that provide specific information pertinent to genetic testing for hypertrophic, dilated, and arrhythmogenic right ventricular cardiomyopathies, long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.
Keywords
Humans, Arrhythmias, Cardiac/diagnosis, Arrhythmias, Cardiac/genetics, Cardiomyopathies/diagnosis, Cardiomyopathies/genetics, Genetic Testing, Death, Sudden, Cardiac/etiology, Long QT Syndrome/diagnosis
Pubmed
Web of science
Open Access
Yes
Create date
18/07/2023 10:34
Last modification date
08/08/2024 6:39
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