p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort.

Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: , and . Efforts to improve the understanding of the genotype-phenotype relationship are essential to improve the medical clinical practice.

Spectral Analysis of the QT Interval Increases the Prediction Accuracy of Clinical Variables in Brugada Syndrome.

(1) Background: The clinical management of Brugada Syndrome (BrS) remains suboptimal. (2) Objective: To explore the role of standard electrocardiogram (ECG) spectral analysis in diagnosis and risk stratification. (3) Methods: We analyzed 337 patients-43 with a spontaneous type I ECG pattern (Spont-BrS), 112 drug induced (Induct-BrS), and 182 with a negative response to the drug challenge (negative responders (NR)).

Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease.

The nuclear-factor kappa-beta (NF-KB) is a driver of inflammation, and plays an important role in the pathogenesis of atherosclerosis and coronary artery disease (CAD). Early-onset CAD is defined as a coronary ischaemic episode at an age ≤55 years, and in our population was strongly associated with male sex and smoking. Our aim was to determine whether common variants in three NF-KB genes were associated with early-onset CAD.

Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy.

Aim: The long noncoding RNA H19 and its host micro RNA miR-675 have been found deregulated in cardiac hypertrophy and heart failure tissues. Our aim was to investigate whether the H19 gene variants were associated with the risk of hypertrophic cardiomyopathy (HCM).

Patients & Methods: We genotyped two H19 tag single nucleotide polymorphisms in 405 HCM patients and 550 controls, and sequenced this gene in 100 patients.