A5015112321- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Cardiac Arrhythmias and Treatments
- Ion Transport and Channel Regulation
- Muscle Physiology and Disorders
- Advanced MRI Techniques and Applications
- RNA Research and Splicing
- ECG Monitoring and Analysis
- Adipose Tissue and Metabolism
- Cardiac Imaging and Diagnostics
- Botanical Research and Chemistry
- Cardiac pacing and defibrillation studies
- RNA modifications and cancer
Spanish National Centre for Cardiovascular Research
2021-2024
Centro de Investigación en Red en Enfermedades Cardiovasculares
2022
Centro de Investigación Biomédica en Red
2022
Short QT syndrome type 3 (SQTS3) is a rare arrhythmogenic disease caused by gain-of-function mutations in KCNJ2, the gene coding inward rectifier potassium channel Kir2.1. We used multidisciplinary approach and investigated mechanisms an in-vivo model of de-novo mutation Kir2.1E299V identified patient presenting extremely abbreviated interval paroxysmal atrial fibrillation.
Patients with cardiomyopathy of Duchenne Muscular Dystrophy (DMD) are at risk developing life-threatening arrhythmias, but the mechanisms unknown. We aimed to determine role ion channels controlling cardiac excitability in arrhythmias DMD patients.
Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding strong inwardly rectifying K
Andersen-Tawil syndrome (ATS) is a rare inheritable disease associated with loss-of-function mutations in KCNJ2, the gene coding strong inward rectifier potassium channel Kir2.1, which forms an essential membrane protein controlling cardiac excitability. ATS usually marked by triad of periodic paralysis, life-threatening arrhythmias and dysmorphic features, but its expression variable not all patients phenotype linked to have known genetic alteration. The mechanisms underlying this...
The aim of this work was to analyze the influence sex hormones and anatomical details (trabeculations false tendons) on electrophysiology healthy human hearts. Additionally, sex- anatomy-dependent effects ventricular tachycardia (VT) inducibility are presented. To end, four anatomically normal, human, biventricular geometries (two male, two female), with identifiable trabeculations, were obtained from high-resolution, ex-vivo MRI represented by detailed smoothed geometrical models (with...
Andersen-Tawil syndrome type 1 (ATS1) is associated with life-threatening arrhythmias of unknown mechanism. In this study, we generated and characterized a mouse model ATS1 carrying the trafficking-deficient mutant Kir2.1
Delayed gadolinium-enhanced cardiac magnetic resonance (LGE-CMR) imaging requires novel and time-efficient approaches to characterize the myocardial substrate associated with ventricular arrhythmia in patients ischemic cardiomyopathy. Using a translational approach pigs established infarction, we tested validated 3D methodology assess scar using custom transmural criteria semiautomatic obtain maps models reconstructed from both 3D-acquired 3D-upsampled-2D-acquired LGE-CMR images. The results...
Andersen-Tawil Syndrome Type 1 (ATS1) is a rare heritable disease caused by mutations in the strong inwardly rectifying K
Abstract Background Flecainide and other class-Ic antiarrhythmic drugs (AADs) are widely used in Andersen-Tawil syndrome type 1 (ATS1) patients. However, might be proarrhythmic some cases. We investigated the molecular mechanisms of class-I AADs proarrhythmia whether they increase risk death ATS1 patients with structurally normal hearts. Methods Results Of 53 reviewed from literature, 54% responded partially to flecainide, ventricular arrhythmia (VA) reduction only 23%. latter patients, VA...
ABSTRACT Andersen-Tawil Syndrome (ATS) is associated with life threatening arrhythmias of unknown mechanism. We report on a mouse model carrying the trafficking-deficient mutant Kir2.1 Δ314-315 . The recapitulates electrophysiological phenotype type 1 (ATS1), slower conduction velocities in response to flecainide, QT prolongation exacerbated by isoproterenol, and increased vulnerability calcium-mediated resembling catecholaminergic polymorphic ventricular tachycardia (CPVT). expression...
Abstract The aim of this work was to analyze the influence gender and anatomical details (trabeculations false tendons) on electrophysiology healthy infarcted myocardium their relation ventricular tachycardia (VT) inducibility. To end, four anatomically normal, human, biventricular geometries (two male, two female), with identifiable trabeculations, were obtained from high-resolution, ex-vivo MRI represented by detailed smoothed geometrical models (with without trabeculations). Additionally...
Abstract Introduction Short QT Syndrome Type 3 (SQTS3) is an extremely rare arrhythmogenic disease caused by gain-of-function mutations in the KCNJ2 gene coding inward rectifier potassium channel Kir2.1. We investigated mechanisms associated with a de-novo mutation (E299V) Kir2.1 11-year-old boy presenting abbreviated interval, paroxysmal atrial fibrillation, and mild left ventricular dysfunction. Amino acid E299 sequence necessary for polyamine binding induced rectification. Purpose Test...
Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main source(s): - Ministerio de Ciencia e Innovación and the ProCNIC Foundation Grant TEC2017-82408-R Background We aimed to validate a 3D methodology for transmural scar assessment using time-efficient upsampled models from 2D delayed gadolinium-enhanced cardiac magnetic resonance (LGE-CMR) sequences determine clinical implications in ischemic cardiomyopathy-related ventricular tachycardia...
Background: Andersen-Tawil syndrome type 1 (ATS1), caused by trafficking deficient mutations in the gene KCNJ2 coding inward rectifier K + channel Kir2.1, is associated with life-threatening arrhythmias, which some patients resemble catecholaminergic polymorphic ventricular tachycardia (CPVT), but mechanisms are poorly understood. We tested hypothesis that dysfunction of two different populations mutant Kir2.1 channels, one at sarcolemma, and other sarcoplasmic reticulum (SR) membrane,...