Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

ABSTRACT: A leading cause of death in western countries is sudden cardiac death, and can be associated with genetic disease. Next-generation sequencing has allowed thorough analysis of genes associated with this entity, including, most recently, titin. We aimed to identify potentially pathogenic genetic variants in titin. A total of 1126 samples were analyzed using a custom sequencing panel including major genes related to sudden cardiac death. Our cohort was divided into three groups: 432 cases from patients with cardiomyopathies, 130 cases from patients with channelopathies, and 564 post-mortem samples from individuals showing anatomical healthy hearts and non-conclusive causes of death after comprehensive autopsy. None of the patients included had definite pathogenic variants in the genes analyze

SUBMITTER: Campuzano O 

PROVIDER: S-EPMC4632826 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature