Cardiac phenotype in <i>ATP1A3</i> -related syndromes

Abstract

We found increased prevalence of ECG dynamic abnormalities in all <i>ATP1A3</i>-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 <i>Atp1a3</i>-related disease. <i>ATP1A3</i>-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.