Year: 2024
Type: article
Abstract: Titin, encoded by the TTN gene, is the largest human protein, essential for maintaining muscle cell stability and regulating myocardial contraction. TTN truncating variants (TTNtv) have emerged as the most common genetic cause of dilated cardiomyopathy (DCM), accounting for up to 25% of familial cases and 18% of sporadic cases. This review examines the complex relationship between TTN variants and DCM, highlighting the challenges posed by incomplete penetrance and variable expressivity. While truncating variants primarily in the A-band region [...]
Authors: Silas Ramos Furquim, Paula de Mendonça Senra, Bianca Domit Werner Linnenkamp, Kelvin Henrique Vilalva, Marjorie Hayashida Mizuta, Bruno Moreira dos Santos, Bruno de Oliveira Stephan, Elisangela Aparecida da Silva, Nara Alves Buriti, Vitória Pelegrino do Val, Fernanda Almeida Andrade, Jose Eduardo Krieger
Institutions: Universidade de São Paulo, Instituto do Coração - HCFMUSP
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4403597287