An intronic mutation causes long QT syndrome
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چکیده
منابع مشابه
Mutation of an A-kinase-anchoring protein causes long-QT syndrome.
A-kinase anchoring proteins (AKAPs) recruit signaling molecules and present them to downstream targets to achieve efficient spatial and temporal control of their phosphorylation state. In the heart, sympathetic nervous system (SNS) regulation of cardiac action potential duration (APD), mediated by beta-adrenergic receptor (betaAR) activation, requires assembly of AKAP9 (Yotiao) with the I(Ks) p...
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Long QT syndrome (LQTS) is characterized by inherited or acquired prolonged QT interval on the surface electrocardiogram. This can lead to torsade de pointes ventricular tachycardia (TdP VT) and ventricular fibrillation. In the acquired form of the disease, medications from several classes can cause TdP VT or potentiate the electrocardiographic findings. These include class IA and III antiarrhy...
متن کاملLong-QT syndrome in a family with a KCNH2 mutation
Long-QT syndrome (LQTS) is an inherited ion channelopathy resulting in abnormal ventricular repolarization and abnormal prolongation of the QT interval on the electrocardiogram. Clinical features vary, from asymptomatic individuals to those with presyncope, life threatening ventricular arrhythmias and sudden cardiac death (SCD). This case report describes a family with a mutation of the KCNH2 g...
متن کاملMutation-specific pharmacology of the long QT syndrome.
The congenital long QT syndrome is a rare disease in which inherited mutations of genes coding for ion channel subunits, or channel interacting proteins, delay repolarization of the human ventricle and predispose mutation carriers to the risk of serious or fatal arrhythmias. Though a rare disorder, the long QT syndrome has provided invaluable insight from studies that have bridged clinical and ...
متن کاملLong QT Syndrome
Background. Erythromycin is known to prolong ventricular repolarization and has been associated with the occurrence of torsades de pointes. In this study, we have investigated potential mechanisms in vivo and in vitro for induction of an acquired long QT syndrome by erythromycin. Methods and Results. Ventricular electrograms and endocardial monophasic action potentials were recorded in anesthet...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2004
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2004.06.045