A publication of the Brazilian Society of Cardiology
Natália Olivetti
, Márya Pagotti
, Bruno Moreira Santos
, Marjorie Mizuta
, Bianca Linnenkamp
, [...]
Natália Olivetti
, Márya Pagotti
, Bruno Moreira Santos
, Marjorie Mizuta
, Bianca Linnenkamp
, [...]
Abstract Filamin C (FLNC) plays a critical role in maintaining the structural integrity of muscle cells, particularly within the cardiac sarcomere. Pathogenic variants in the FLNC gene are increasingly recognized as significant contributors to a diverse range of cardiomyopathies, including dilated (DCM), hypertrophic (HCM), arrhythmogenic (ACM), and restrictive cardiomyopathy (RCM). This review explores the genotype-phenotype correlations in FLNC-related cardiomyopathies, emphasizing how the type and location of genetic variants influence the clinical presentation. Truncating variants are primarily associated with DCM and […]
Keywords: Arrhythmogenic Right Ventricular Dysplasia; Dilated Cardiomyopathy; Filamins; Hypertrophic Cardiomyopathy; Restrictive Cardiomyopathy