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 ResearchMeSH KeywordsCalmodulinChildDeath, Sudden, CardiacHumansLong QT SyndromeMutationRegistriesTachycardia, VentricularConceptsClinical 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 management
2018
Hereditary arrhythmias and cardiomyopathies
Louis C, Calamaro E, Vinocur JM. Hereditary arrhythmias and cardiomyopathies. Current Opinion In Cardiology 2018, 33: 78-86. PMID: 29059074, DOI: 10.1097/hco.0000000000000477.Commentaries, Editorials and LettersMeSH KeywordsArrhythmias, CardiacArrhythmogenic Right Ventricular DysplasiaBrugada SyndromeCardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, Hypertrophic, FamilialClinical Decision-MakingGenetic CounselingGenetic TestingHealth Services AccessibilityHumansLong QT SyndromePatient Care TeamPractice Guidelines as TopicTachycardia, VentricularConceptsHereditary arrhythmiasGenetic testingClass I recommendationManagement of patientsStandard of careAppropriateness of useI recommendationConsensus guidelinesCardiomyopathy diagnosisFamily screeningClinical geneticsReproductive planningClinical practiceMultidisciplinary teamOptimal managementArrhythmiasAppropriate useCardiomyopathyDiagnosisGenetic counselorsGuidelinesCase-based approachPatientsPrognosisTesting