0000000000217415

AUTHOR

Isabel Deisenhofer

showing 3 related works from this author

KCND3 is a novel susceptibility locus for early repolarization

2019

AbstractThe presence of an early repolarization pattern (ERP) on the surface electrocardiogram (ECG) is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait but molecular genetic determinants are unknown. We assessed the ERP in 12-lead ECGs of 39,456 individuals and conducted a two-stage meta-analysis of genome-wide association studies (GWAS). In the discovery phase, we included 2,181 cases and 23,641 controls from eight European ancestry studies and identified 19 genome-wide significant (p<5E-8) variants in the KCND3 (potassium voltage gated channel subfamily D member 3) gene with a p-value of 4.6E-10. …

medicine.medical_specialtyBenign early repolarizationEarly Repolarization Patternbusiness.industryGenome-wide association studymedicine.diseaseSudden cardiac deathFamily studiesInternal medicineVentricular fibrillationmedicineSusceptibility locusCardiologybusinessGenetic association
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Correlation between atrial fibrillation driver locations and complex fractionated atrial electrograms in patients with persistent atrial fibrillation.

2018

Introduction The aim of this study was to evaluate a spatial correlation between active atrial fibrillation (AF) drivers measured by electrocardiographic imaging and complex fractionated atrial electrograms (CFAEs) in patients with persistent AF. Methods Sixteen patients with persistent AF were included. A biatrial geometry relative to an array of 252-body-surface-electrodes was obtained from a noncontrast computed tomography scan. The reconstructed unipolar AF electrograms were signal-processed (ECVUE™, CardioInsight Technologies Inc., Cleveland, OH, USA) to identify AF drivers. Before driver ablation, a biatrial mapping using the NavX system (St. Jude Medical, St. Paul, MN, USA) was perfo…

Malemedicine.medical_specialtymedicine.medical_treatment030204 cardiovascular system & hematologyArticleCorrelation03 medical and health sciencesElectrocardiography0302 clinical medicineInternal medicineAtrial FibrillationmedicineHumansIn patient030212 general & internal medicineCoronary sinusAgedAtrium (architecture)business.industryBody Surface Potential MappingAtrial fibrillationSignal Processing Computer-AssistedGeneral MedicineMiddle Agedmedicine.diseaseAblationmedicine.anatomical_structureTreatment OutcomePersistent atrial fibrillationCardiologyCatheter AblationRight atriumFemaleCardiology and Cardiovascular MedicinebusinessTomography X-Ray Computedhuman activitiesPacing and clinical electrophysiology : PACE
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KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

2019

BACKGROUND: The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait, but molecular genetic determinants are unknown. METHODS: To identify genetic susceptibility loci for ERP, we performed a GWAS and meta-analysis in 2,181 cases and 23,641 controls of European ancestry. RESULTS: We identified a genome-wide significant (P < 5 × 10(–8)) locus in the potassium voltage-gated channel subfamily D member 3 (KCND3) gene that was successfully replicated in additional 1,124 cases and 12,510 controls. A subsequent joint meta-analysis of the discov…

Male0301 basic medicineGenotypeHeart VentriclesGenome-wide association studyLocus (genetics)BiologyPolymorphism Single NucleotideWhite PeopleSudden cardiac deathElectrocardiography03 medical and health sciences0302 clinical medicineGenetic variationmedicineGenetic predispositionHumansSNPGWASGenetic Predisposition to DiseaseJ-POINT ELEVATIONS422LAlleleGENOME-WIDE ASSOCIATIONGeneMUTATIONAllelesMETAANALYSISGeneticsGeneral Medicinemedicine.diseaseddc:Death Sudden CardiacShal Potassium Channels030104 developmental biologyGenetic Loci030220 oncology & carcinogenesisVentricular FibrillationCORONARY-ARTERY-DISEASEFemaleVENTRICULAR-FIBRILLATIONClinical MedicineTranscriptomeGenome-Wide Association Study
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