Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients With Sporadic Dilated Cardiomyopathy.

ABSTRACT: Background: Mutations in the TTN gene are the most common causes of dilated cardiomyopathy (DCM). The clinical significance of TTN gene variants remains inadequately understood. Methods: Whole-exome sequencing and phenotypic characterisation were performed, and patients were followed up for a median of 44 months. Results: We analyzed the association of the TTN variants with the clinical outcomes in a prospective study of 1,041 patients with sporadic DCM. TTN truncating variants (tTTN) were detected in 120 (11.5%) patients as compared with 2.4/10,000 East Asian populations in the Genome Aggregation Database (GnomAD; p < 0.0001). Pathogenic TTN missense variants were also enriched in DCM as compared with the GnomAD populations (2

SUBMITTER: Xiao L 

PROVIDER: S-EPMC8120103 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature