title: Inherited arrhythmogenic diseases: the complexity beyond monogenic disorders.
abstract: Twelve years after the identification of the molecular bases of the long-QT syndrome, it is now possible to express some considerations on the impact that genetic findings have had in the understanding of inherited arrhythmogenic diseases. Along with the excitement for the emerging data on genotype/phenotype correlation and for the development of the first recommendations for gene-specific management of patients, it is also important to acknowledge the unexpected complexity that has emerged. The focus of this article is to analyze the elusive aspects of the relationship between genetic defects and clinical manifestations and to propose some research directions that may provide the needed answers to move forward in the understanding of the genetics of heart rhythm abnormalities.
authors.affiliation: Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, University of Pavia, Pavia, Italy. spriori@fsm.it
authors.forename: Silvia G
authors.initials: SG
authors.lastname: Priori
mesh_terms: D017487:Ankyrins / Q000235:genetics / Q000502:physiology; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics / Q000502:physiology; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000235:genetics / Q000502:physiology; D008133:Long QT Syndrome / Q000235:genetics; D020412:Multifactorial Inheritance; D009928:Organ Specificity; D010641:Phenotype; D013577:Syndrome
chemical_list: D017487:Ankyrins; D002135:Calcium-Binding Proteins; D007473:Ion Channels