Genetic testing in heritable cardiac arrhythmia syndromes

Inherited Cardiac Arrhythmia Syndromes

Lethal cardiac arrhythmias in individuals with structurally normal heart are often caused by variants in genes that encode cardiac ion channel and -subunits (102). Common inherited arrhythmia syndromes include the congenital long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (76). Moreover, inherited mutatio...

Cardiac sodium channel and inherited arrhythmia syndromes.

Genetic Insurance Discrimination in Sudden Arrhythmia Death Syndromes

Sudden unexpected death is defined as a natural unexpected fatal event that occurs within 1 hour of the onset of symptoms in an apparently healthy subject or in one whose disease was not so severe as to predict such an abrupt outcome. Approximately 294 851 adults and 2000 children die of sudden unexpected death in the United States each year. Evidence from a Danish population suggests an incide...

Inherited arrhythmia syndromes.

Inherited cardiac arrhythmia syndromes have received a lot of attention in recent years, particularly the molecular genetic basis, which has been unraveled to a great extent in the past years. Disease entities have been subdivided based on their causal gene defect, which, indeed, has been shown to impact on disease expression, clinical characteristics, prognosis and treatment. This particularly...

Clinical Genetic Testing of Periodic Fever Syndromes

Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of period...