Screening of the <i>Filamin C</i> Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients

Abstract

We provide a compelling evidence of the involvement of <i>FLNC</i> in the development of HCM. Most of the <i>FLNC</i> variants were associated with mild forms of HCM and a reduced penetrance, with few affected in the families to confirm the segregation. Our work, together with others who found <i>FLNC</i> variants among patients with dilated and restrictive cardiomyopathies, pointed to this gene as an important cause of structural cardiomyopathies.