Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Lia CrottiCarla SpazzoliniMette NygaardMichael Toft OvergaardMaria-Christina KottaFederica DagradiLuca SalaTakeshi AibaMark D AyersAnwar BabanJulien BarcCheyenne M BeachElijah R BehrJ Martijn BosMarina CerronePeter CoviBettina F CuneoIsabelle DenjoyBirgit DonnerAdrienne ElbertHåkan EliassonSusan P EtheridgeMegumi FukuyamaFrancesca GirolamiRobert M HamiltonMinoru HorieMaria IasconeJuan Jiménez JaimezHenrik Kjaerulf JensenPrince J KannankerilJuan Pablo Pablo KaskiNaomasa MakitaCarmen Muñoz-EsparzaHans Henrik OdlandSeiko OhnoJohn PapagiannisAlessandra Pia PorrettaChristopher PrandstetterVincent ProbstTomas RobynsEric RosenthalFerran Roses Y NoguerNicole SekarskiAnoop SinghGeorgia SpentzouFridrike StuteJacob Tfelt HansenJan TillKathryn E TobertJeffrey M VinocurGregory WebsterArthur A M WildeCordula M WolfMichael J AckermanPeter J SchwartzPublished in: European heart journal (2023)
Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter-defibrillator.