The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block
Ziki M, Akar J, Neogi A, Abboud J, Choueiri S, Driscoll T, Bhat N, Ugwu N, Liu Y, Smith E, Mani A. The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block. European Heart Journal 2020, 41: ehaa946.0330. DOI: 10.1093/ehjci/ehaa946.0330.Peer-Reviewed Original ResearchEarly-onset atrial fibrillationNon-ischemic cardiomyopathyOnset atrial fibrillationAtrial fibrillationHeart blockFamilial atrial fibrillationWhole-exome sequencingIschemic strokeConduction diseaseDES mutationsCardiac conduction diseaseCommon cardiac arrhythmiaAutosomal dominant patternFamily membersModifier genesPacemaker implantationPleiotropic effectsMutation carriersUnaffected family membersCodon 13Beta-adrenergic receptor phosphorylationCardiac arrhythmiasCardiac conductionCardiomyopathyDES gene