Computational tools to investigate genetic cardiac channelopathies

Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

Advancements in genetic screening have generated massive amounts of data on genetic variation; however, a lack of clear pathogenic stratification has left most variants classified as being of unknown significance. This is a critical limitation for translating genetic data into clinical practice. Genetic screening is currently recommended in the guidelines for diagnosis and treatment of cardiac ...

Genetic Testing for Cardiac Ion Channelopathies

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic ...

Risk Stratification in Young Patients With Channelopathies

Identifying the young patient at risk of malignant arrhythmias and sudden cardiac death remains a challenge. It is increasingly recognised that sudden death, syncope and aborted cardiac arrest at a young age in patients with a structurally normal heart may be the result of various ion channel disorders - the channelopathies. The approach to risk stratification involves a combination of the clin...

Rare Association of two Genetic Causes of Sudden Death in a Young Survivor

Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies.1 Genetic testing can be essential in the follow-up of survivors and today ́s genetic diagnostics may include the parallel analysis of several SCA related genes, most commonly those associated with ion channelopathies and hypertrophic cardiomyopath...