Genetics of sudden death: Focus on inherited channelopathies

  • Cerrone M
  • Priori S
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Abstract

Since the discovery of the genetic bases of the long QT syndrome, several new genetically mediated arrhythmias have been described, defining a new group of syndromes, called inherited arrhythmogenic diseases. This allowed clarifying the substrate of several cases of juvenile sudden death, previously defined as ‘idiopathic ventricular fibrillation'. Studies derived from this field also contributed to advance the field of electrophysiology, elucidating some of the mechanisms that regulate the cardiac electrical properties of the heart. Recently, new genes and new proteins have been called into play, expanding the knowledge on the complexity of the regulatory processes modulating the cardiac action potential. Moreover, the collaboration between clinicians and basic scientists opened new approaches in the management of patients affected by genetic arrhythmias. This body of knowledge has then moved into the realization that genetic variations may also influence the predisposition to acquired cardiac diseases. The new exciting challenges that investigators are now facing are connected to the possibility of expanding the field towards the use of these information to shape a newer vision in the management and cure of patients

Author-supplied keywords

  • Channelopathies
  • GWAS
  • Genetics
  • Inherited arrhythmias
  • Sudden cardiac death

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