Long QT syndrome: beyond the causal mutation

Beyond Long QT Syndrome

The basic science of membrane channels has set in motion striking clinical results, especially in cardiology. The clinical phenotype of cardiac channelopathies is conspicuous; sudden death or cardiac arrest may be the initial presentation. The last 2 decades have changed the face of diagnosis and treatment of inherited channelopathies for families who have a high, and often unrecognized, likeli...

Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.

Mutation-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 ...

The Long QT Syndrome

Introduction The Long QT syndrome (LQTS) can be inherited or acquired and is of particular interest and concern at present. Patients with LQTS are predisposed to the ventricular tachyarrhythmia torsade de pointes (TdP) which causes syncope and sudden death. Inherited LQTS is the prototype of the "primary cardiac arrhythmias" or "cardiac ion channelopathies". The study of inherited LQTS has prov...

Long-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...