The long QT syndromes: genetic basis and clinical implications
نویسندگان
چکیده
منابع مشابه
The long QT syndromes: genetic basis and clinical implications.
It is becoming clear that mutations in the KVLQT1, human "ether-a-go-go" related gene, cardiac voltage-dependent sodium channel gene, minK and MiRP1 genes, respectively, are responsible for the LQT1, LQT2, LQT3, LQT5 and LQT6 variants of the Romano-Ward syndrome, characterized by autosomal dominant transmission and no deafness. The much rarer Jervell-Lange-Nielsen syndrome (with marked QT prolo...
متن کاملClinical Perspective. Molecular genetics of inherited long QT syndromes
Unravelling the molecular cause of QT prolongation is one of the most exciting contributions of molecular biology to clinical cardiology in the last decade. Not only have mutations in four different genes been described, at least two additional chromosomal loci have been identified harbouring genes with an as yet unknown DNA sequence and protein function. Simultaneously cellular electrophysiolo...
متن کاملShort and long QT syndromes: does QT length really matter?
The short and long QT syndromes are inherited diseases associated with an increased risk for life-threatening arrhythmias. The first case of long QT syndrome (LQTS) was reported more than 150 years ago, and the study of this disease led to crucial advancement of our understanding of channelopathies and associated ventricular arrhythmias. Ten years ago, Gussak et al. reported four cases of idiop...
متن کاملThe long QT syndrome: therapeutic implications of a genetic diagnosis.
The congenital long QT syndrome (LQTS) is a hereditary disorder characterized by a prolonged QT interval and a polymorphic ventricular tachycardia, known as torsade de pointes (TdP), leading to severe cardiac events such as syncope and/or sudden cardiac death. Molecular genetic studies have revealed a total of eight forms of congenital LQTS caused by mutations in genes of the potassium, sodium ...
متن کاملCongenital long and short QT syndromes.
Congenital long and short QT syndromes are familial arrhythmias characterized by derangement of repolarization and a high risk of sudden cardiac death due to ventricular tachyarrhythmias. With growing understanding of these syndromes in both the medical and lay communities, diagnostic and therapeutic difficulties are increasingly faced by health care providers. Modern genomics has determined th...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2000
ISSN: 0735-1097
DOI: 10.1016/s0735-1097(00)00716-6