2024
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Elizondo G, Saini A, Gonzalez de Alba C, Gregor A, Harding C, Gillingham M, Vinocur J. Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency. Genetics In Medicine 2024, 26: 101123. PMID: 38501492, DOI: 10.1016/j.gim.2024.101123.Peer-Reviewed Original ResearchLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenaseCardiac involvementCardiac arrestMetabolic decompensationCardiac phenotypeDilated cardiomyopathyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficient patientsEpisodes of metabolic decompensationEnd-stage dilated cardiomyopathyOut-of-hospital cardiac arrestAcute cardiac decompensationIn-hospital cardiac arrestFatty acid oxidation disordersLife-threatening arrhythmiasInfantile dilated cardiomyopathySudden cardiac arrestPotential risk factorsCardiac manifestationsCardiac decompensationRestrictive cardiomyopathyRecurrent episodesRetrospective cohortRisk stratificationPeripheral neuropathy
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