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 […]

Abstract Arrhythmogenic cardiomyopathy with exclusive or predominant involvement of the left ventricle has been described recently. It has a heterogeneous genetic basis with different clinical phenotypes ranging from ventricular arrhythmias and sudden death (SD), symptoms suggestive of acute myocarditis with chest pain and troponin elevation, symptoms of heart failure, to asymptomatic patients. A high level of suspicion is needed for a correct diagnosis and implementation of a genotype-based therapy, to prevent its most feared complication, SD. This review aims to […]