title: The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes.
abstract: Long QT syndrome refers to a characteristic abnormality of the electrocardiogram and it is associated with a form of ventricular tachycardia known as torsade-de-pointes and sudden arrhythmic death. It can occur as part of a hereditary syndrome or can be acquired usually because of drug administration. Here we review recent genetic, molecular and cellular discoveries and outline how they have furthered our understanding of this disease. Specifically we focus on compound mutations, genome wide association studies of QT interval, modifier genes and the therapeutic implications of this recent work.
authors.forename: Stephen C
authors.initials: SC
authors.lastname: Harmer
authors.forename: Andrew
authors.initials: A
authors.lastname: Tinker
mesh_terms: D000818:Animals; D001145:Arrhythmias, Cardiac / Q000150:complications; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology; D008133:Long QT Syndrome / Q000139:chemically induced / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D032383:Myocytes, Cardiac / Q000378:metabolism / Q000473:pathology