Genetic Test for the Channelopaties: Useful or Less Than Useful for Patients? (Part II)

Transl Med UniSa. 2013 May 6:6:35-40. eCollection 2013.

Abstract

The advanced knowledge about genetic diseases and their mutations has widened the possibility to have a more precise and definitive diagnosis in many patients, but the use of genetic testing is still controversial. Actually, many cardiomyopathies show the availability of genetic testing. The clinical utility of this testing has been widely debated, but it is evident that the use of genetics must be put in a more organic diagnostic pathway that includes the evaluation of risks and benefits for the patient and his relatives, as well as the costs of the procedure. This review aims to clarify the role of genetic in clinics regarding Channelopaties, less frequent but equally important than other Cardiomyopathies because patients can often be asymptomatic until the first fatal manifestation.

Keywords: Brugada Syndrome; Catecholaminergic Polymorphic Ventricular Tachycardia; Channelopaties; Genetic Testing; Long QT Syndrome; Short QT Syndrome.