2024
Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies
Aggarwal A, Stolear A, Alam M, Vardhan S, Dulgher M, Jang S, Zarich S. Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies. Journal Of Clinical Medicine 2024, 13: 1781. PMID: 38542006, PMCID: PMC10971616, DOI: 10.3390/jcm13061781.Peer-Reviewed Original ResearchCatecholaminergic polymorphic ventricular tachycardiaLeft cardiac sympathetic denervationTraditional first-line treatmentAbsence of structural heart diseaseCalsequestrin 2 geneMyocyte sarcoplasmic reticulumRate of arrhythmic eventsCardiac ryanodine receptorCardiac sympathetic denervationPolymorphic ventricular arrhythmiasFirst-line treatmentPolymorphic ventricular tachycardiaStructural heart diseaseB-blocker therapySudden cardiac deathPotential new therapiesExercise stress testImplantable cardioverter-defibrillatorHereditary arrhythmia syndromesArrhythmia syndromesRyanodine receptorSarcoplasmic reticulumModerate exercise trainingSympathetic denervationArrhythmic events
2023
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Crotti L, Spazzolini C, Nyegaard M, Overgaard M, Kotta M, Dagradi F, Sala L, Aiba T, Ayers M, Baban A, Barc J, Beach C, Behr E, Bos J, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge S, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen H, Kannankeril P, Kaski J, Makita N, Muñoz-Esparza C, Odland H, Ohno S, Papagiannis J, Porretta A, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert K, Vinocur J, Webster G, Wilde A, Wolf C, Ackerman M, Schwartz P. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. European Heart Journal 2023, 44: 3357-3370. PMID: 37528649, PMCID: PMC10499544, DOI: 10.1093/eurheartj/ehad418.Peer-Reviewed Original ResearchConceptsClinical presentationPrimary neurological manifestationsCardiac structural abnormalitiesLife-threatening arrhythmia syndromesArrhythmic event rateAbsence of symptomsLife-threatening arrhythmiasSodium channel blockersCongenital heart defectsAntiadrenergic interventionsCardiac eventsHeart failureNeurological manifestationsUnderlying molecular mechanismsDefinitive recommendationsClinical severityChannel blockersObservational studySudden deathIndex caseArrhythmia syndromesHeart defectsPrevalent phenotypeStructural abnormalitiesCurrent managementThe Evolving Role of Insertable Cardiac Monitors in Patients with Congenital Heart Disease
Beach C, Richardson C, Paul T. The Evolving Role of Insertable Cardiac Monitors in Patients with Congenital Heart Disease. Cardiac Electrophysiology Clinics 2023, 15: 413-420. PMID: 37865515, DOI: 10.1016/j.ccep.2023.06.001.Peer-Reviewed Original ResearchConceptsInsertable cardiac monitorCongenital heart diseaseHeart diseaseDiagnostic yieldCardiac monitorHigh arrhythmia riskSymptom-rhythm correlationPatient-specific factorsGenetic arrhythmia syndromesGood diagnostic yieldArrhythmogenic syncopePediatric patientsArrhythmia riskArrhythmia syndromesPatientsDiseaseImplantation techniqueLower ratesEvolving roleRiskComplicationsSyncopeSyndrome
2022
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization
Bersell K, Yang T, Mosley J, Glazer A, Hale A, Kryshtal D, Kim K, Steimle J, Brown J, Salem J, Campbell C, Hong C, Wells Q, Johnson A, Short L, Blair M, Behr E, Petropoulou E, Jamshidi Y, Benson M, Keyes M, Ngo D, Vasan R, Yang Q, Gerszten R, Shaffer C, Parikh S, Sheng Q, Kannankeril P, Moskowitz I, York J, Wang T, Knollmann B, Roden D. Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization. Circulation 2022, 147: 824-840. PMID: 36524479, PMCID: PMC9992308, DOI: 10.1161/circulationaha.122.062193.Peer-Reviewed Original ResearchConceptsPlatelet-derived growth factorInduced pluripotent stem cellsBrugada syndromeArrhythmia syndromesSerum platelet-derived growth factorSodium currentGeneral transcriptional mechanismFramingham Heart Study cohortPI3KPDGF receptor expressionLate sodium currentCardiac sodium currentCardiac transcription factorsSmall molecule perturbationsCurrent-clamp experimentsCardiac sodium channel geneSodium channel geneFramingham Heart StudyMurine model systemPluripotent stem cellsMonogenic arrhythmia syndromesReceptor blockadeElectrophysiologic abnormalitiesQTc intervalStudy cohort
2004
Ionic mechanisms of cardiac arrhythmias
Akar F, Tomaselli G. Ionic mechanisms of cardiac arrhythmias. Drug Discovery Today Disease Mechanisms 2004, 1: 23-30. DOI: 10.1016/j.ddmec.2004.08.005.ChaptersIndividual cardiac myocytesArrhythmia controlCardiac arrhythmiasIntricate vascular networkDuke University Medical CenterCardiac myocytesGood arrhythmia controlSudden cardiac death casesCardiac death casesUniversity Medical CenterIonic mechanismsGenetic risk factorsPascal J. Goldschmidt-ClermontGlobal electrical activityCardiovascular deathAbnormal heart rhythmMalignant arrhythmiasDrug therapyRhythm disturbancesHeart diseaseRisk factorsMedical CenterTherapeutic strategiesArrhythmia syndromesCardiac chambers
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