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

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

SUBMITTER: Hayesmoore JB 

PROVIDER: S-EPMC10474043 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature