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 management
2018
Mortality Following Pediatric Congenital Heart Surgery: An Analysis of the Causes of Death Derived From the National Death Index
McCracken C, Spector LG, Menk JS, Knight JH, Vinocur JM, Thomas AS, Oster ME, St Louis JD, Moller JH, Kochilas L. Mortality Following Pediatric Congenital Heart Surgery: An Analysis of the Causes of Death Derived From the National Death Index. Journal Of The American Heart Association 2018, 7: e010624. PMID: 30571499, PMCID: PMC6404427, DOI: 10.1161/jaha.118.010624.Peer-Reviewed Original ResearchConceptsCongenital heart surgeryNational Death IndexCongenital heart defectsStandardized mortality ratioCause of deathHeart surgeryDeath IndexCardiovascular disordersHeart failureSeverity of CHDCause-specific standardized mortality ratiosPediatric Cardiac Care ConsortiumRetrospective cohort studyAdjusted odds ratioLong-term outcomesRisk of deathLong-term riskConclusions SurvivorsMedian followNoncardiac conditionsCohort studyResidual morbidityEarly outcomesLate causesCardiac arrest