Truncating Variants and Human Cardiomyopathy

What is the contribution of truncating variants (tvs) to arrhythmogenic dilated cardiomyopathy (DCM)?In this cohort study including 4249 participants in UK Biobank and 179 in the RBM20 registry, tvs displayed overall low penetrance compared to a more common genetic cause of DCM (titin truncating variants) in large population biobanks. Patients with DCM and tvs had a milder lifetime disease course than those with known disease-causing variants in .These observations suggest that tvs be viewed clinically as low-effect contributors to arrhythmogenic DCM.

Corresponding Author: Victoria N. Parikh, MD, Stanford Center for Inherited Cardiovascular Disease and Department of Medicine, Stanford School of Medicine, 870 Quarry Rd, Palo Alto, CA 94305 (vparikh@stanford.edu).

Link to the article in your story

We encourage you to link out to this article in your story using the link below. It includes an access token that will give free access to the article for your readers up to one year after publication. (The link will be live after the article publishes and embargo is lifted.)

Please see the article for additional information, including full author list, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

Need more information? Contact us.