Cardiac arrhythmias are common, often the first, and sometimes the life-threatening
manifestations of hereditary cardiomyopathies. Pathogenic variants in several genes known …

Recent advancements in next generation sequencing (NGS) technology have led to the
identification of the giant sarcomere gene, titin (TTN), as a major human disease gene …

Introduction Long QT syndrome (LQTS) is an autosomal dominant inherited cardiac
condition characterized by a QT interval prolongation and risk of sudden death. There are 17 …

The rationale for genome-wide association study (GWAS) results is sequence variation in cis-
regulatory elements (CREs) modulating a target gene's expression as the major cause of …

Rare and common genetic variants contribute to the risk of atrial fibrillation (AF). Although
ion channels were among the first AF candidate genes identified, rare loss-of-function …

Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden
death in infants, especially in the first days of life. Performing an electrocardiogram in …

Hundreds of loci have been associated with blood pressure (BP) traits from many genome-
wide association studies. We identified an enrichment of these loci in aorta and tibial artery …

We describe a neonate born with complex arrhythmias that included concurrent atrial and
ventricular tachycardias. Genetic testing demonstrated a mutation in the TTN gene, which …

Results Patient Cohort. DCM patients in this multi-centre study were recruited from three
major cardiogenetic centres in Finland and the Netherlands. All patients fulfilled diagnostic …