Key result
This review provides an overview of current knowledge regarding the use of genetics for risk stratification and therapy selection in monogenic diseases and acquired cardiovascular diseases.
This review highlights the evolving role of genetic testing beyond uncommon monogenic diseases to include patient profiling in acquired cardiovascular diseases for predicting sudden cardiac death.
Genetic testing in acquired CVD remains investigational; extends monogenic insights but leaves open prospective validation before clinical use.
It is known that monogenic traits may predispose young and otherwise healthy individuals to die suddenly. Diseases such as Long QT Syndrome, Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy are well known causes of arrhythmic death in young individuals. For several years the concept of "genetic predisposition" to sudden cardiac death has been limited to these uncommon diseases. In the last few years clinical data have supported the view that risk of dying suddenly may cluster in families, supporting the hypothesis of a genetic component for sudden cardiac death. In this review I will try to provide an overview of current knowledge about genetics of sudden death. I will approach this topic by discussing first where we stand in the use of genetics for risk stratification and therapy selection in monogenic diseases and I will then move to discuss the contribution of genetics to patient profiling in acquired cardiovascular diseases.
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Silvia G. Priori (2013) conducted a review in Sudden cardiac death. Genetic testing was evaluated. This review provides an overview of current knowledge regarding the use of genetics for risk stratification and therapy selection in monogenic diseases and acquired cardiovascular diseases.
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