Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

ABSTRACT: Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first-line genetic test for patients with dilated cardiomyopathy in a contemporary "real-world" setting has not been specifically established. Using whole exome sequencing with rigorous, evidence-based variant interpretation, we aimed to identify the prevalence of a molecular diagnosis in patients with dilated cardiomyopathy in a clinical setting. Methods and Results Whole exome sequencing was performed in eligible patients (n=83) with idiopathic or familial dilated cardiomyopathy. Variants were prioritized for curation in up to 247 genes and classified using American College of Medical Genetics and Genomics-based criteria. Ten (12%) had a pathogenic or l

SUBMITTER: Ramchand J 

PROVIDER: S-EPMC7033851 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature