EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

Journal article

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.

Authors: Hayesmoore, JB; Bhuiyan, ZA; Coviello, DA; du Sart, D; Edwards, M

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer Nature [academic journals on nature.com]
• Journal: European Journal of Human Genetics
• Volume: 31
• Issue: 9
• Pages: 1003-1009
• Publication date: 2023-07-13
• DOI: 10.1038/s41431-023-01421-w
• EISSN: 1476-5438
• ISSN: 1018-4813
• Language: English
• Keywords: Intensive care medicine; Medicine; Brugada syndrome; Penetrance; Family medicine; Genetic testing; Biology; Catecholaminergic polymorphic ventricular tachycardia; Sudden cardiac death; Genetics; Genetic heterogeneity; Referral; Genetic counseling; Phenotype; Internal medicine