Romano-Ward and other congenital long QT syndromes.
Molecular genetics applied to the study of inherited arrhythmogenic diseases has profoundly modified our understanding of cardiac electrophysiology providing new information on the crucial pathophysiological role of cardiac ion channels. These data are now putting forth innovative strategies for clinical management of the affected patients. Among these conditions, long QT syndrome (LQTS) was the first to enter the "genetic era", and nowadays the availability of large population of patients with known mutation allows to draw meaningful genotype-phenotype correlation and genetic-based risk stratification. However, despite the remarkable impact on knowledge, several still poorly defined issues limit the translation of such information into more effective therapeutic stratigies. As an example, despite the evidence of a significant QT shortening potential, the gene-specific therapy of LQTS has still to prove its impact upon the risk of cardiac events. The present article reviews the most critical findings obtained in the last decade in the field of genetic of LQTS in the attempt of underlying its current applicability, limitations and the future perspectives of this knowledge in the management of affected patients.
Bloise
Raffaella
R
Molecular Cardiology Laboratories, Fondazione Salvatore Maugeri IRCCS, Pavia, Italy.
Napolitano
Carlo
C
Priori
Silvia G
SG
D016757:Death, Sudden, Cardiac / Q000209:etiology*; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics*; D008967:Molecular Biology; D010641:Phenotype; D029597:Romano-Ward Syndrome / Q000150:complications / Q000235:genetics*