Filamin C and Cardiomyopathies: Linking Genetic Variants to Their Phenotypic Impact
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 [...]
Authors
- Bianca Domit Werner Linnenkamp (ORCID: https://orcid.org/0000-0001-9889-293X)
- Mariana Lombardi Peres de Carvalho (ORCID: https://orcid.org/0000-0003-4769-8031)
- Márya Duarte Pagotti (ORCID: https://orcid.org/0009-0006-3088-972X)
- Luciana Sacilotto (ORCID: https://orcid.org/0000-0002-3679-5349)
- P. Senra
- Bruno Moreira dos Santos (ORCID: https://orcid.org/0009-0004-0940-4463)
- Marjorie Hayashida Mizuta (ORCID: https://orcid.org/0000-0001-9107-052X)
- Fernanda Almeida Andrade (ORCID: https://orcid.org/0000-0002-2612-8040)
- Natália Olivetti (ORCID: https://orcid.org/0000-0003-1061-8982)
- José Eduardo Krieger (ORCID: https://orcid.org/0000-0001-5464-1792)
Institutions
- Hospital Municipal Souza Aguiar (BR)
Publication Details
- Journal
- ABC Heart Failure & Cardiomyopathy
- Published
- 2025-05-01
- DOI
- https://doi.org/10.36660/abchf.20240059i
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00