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