Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Simona BalestriniMohamad A MikatiReyes Álvarez-García-RovésMichael CarboniArsen S HunanyanBassil KherallahMelissa McLeanLyndsey PrangeElisa De GrandisAlessandra GagliardiLivia PisciottaMichela StagnaroEdvige VeneselliJaume CampistolCarmen FonsLeticia Pias-PeleteiroAllison BrashearCharlotte MillerRaquel SamõesVesna BrankovicQuasar S PadiathAna PoticJacek PilchAikaterini VezyroglouAnn M E ByeAndrew M DavisMonique M RyanChristopher SemsarianGeorgina HollingsworthIngrid E SchefferTiziana GranataNardo NardocciFrancesca RagonaAlexis A ArzimanoglouEleni PanagiotakakiInês CarrilhoClaudio ZuccaJan NovyKarolina DzieżycMarek ParowiczMaria Mazurkiewicz-BeldzinskaSarah WeckhuysenRoser PonsSergiu GroppaDaniel S SindenGeoffrey S PittAndrew TinkerMichael AshworthZuzanna MichalakMaria ThomJ Helen CrossRosaria VavassoriJuan Pablo Pablo KaskiSanjay M SisodiyaPublished in: Neurology (2020)
We found increased prevalence of ECG dynamic abnormalities in all ATP1A3-related syndromes, with a risk of life-threatening cardiac rhythm abnormalities equivalent to that in established cardiac channelopathies (≈3%). Sudden cardiac death due to conduction abnormality emerged as a seizure-related outcome in murine Atp1a3-related disease. ATP1A3-related syndromes are cardiac diseases and neurologic diseases. We provide guidance to identify patients potentially at higher risk of sudden cardiac death who may benefit from insertion of a pacemaker or implantable cardioverter-defibrillator.