Health in Code describes a novel association between the FLNC gene and dilated cardiomyopathy, ventricular arrhythmias, and risk of sudden death
An original research article by Health in Code (HIC) in collaboration with other centers in Spain, Italy and Israel has been published this week in the Journal of the American College of Cardiology (JACC). This great advance has been acknowledged in an editorial in the same magazine and commented by Dr. Valentín Fuster in its online version.
This article describes the association of truncating mutations in the filamin C gene (FLNC) with the development of a particular cardiomyopathy with mixed characteristics of dilated and arrhythmogenic left ventricular cardiomyopathy. A significant degree of myocardial fibrosis, high rate of ventricular arrhythmias, and sudden death are the major complications in this phenotype.
These results will undoubtedly produce a change in the clinical/genetic approach to cardiomyopathies. The FLNC gene should be included systematically in genetic studies of patients with dilated, arrhythmogenic, and restrictive cardiomyopathies and considered a candidate gene in cases of sudden death in young individuals.
Health in Code was a pioneer in the inclusion of FLNC within its cardiomyopathy panels. This publication, a result of years of research and development, would not have been possible without the collaboration and support of all of you. Most of the authors of this paper are colleagues who have relied on Health in Code for the genetic diagnosis of their patients.