EP Europace · 2011 · 901 citations · 230 references
MedicineCardiologyGeneticsClinical CardiologyHuman GeneticsMedical GeneticsChannelopathiesDilated Cardiomyopathy GeneticsInherited CardiomyopathiesCardiac Ion ChannelopathiesChannelopathy GeneticsGenetic TestingHeritable Cardiomyopathy TestingInherited Cardiac ChannelopathiesInherited ChannelopathiesPredictive Genetic TestingTherapeutic Treatment Management
This international consensus statement provides the state of genetic testing for the channelopathies and cardiomyopathies. It summarizes the opinion of the international writing group members based on their own experience and on a general review of the literature with respect to the use and role of genetic testing for these potentially heritable cardiac conditions. This document focuses primarily on the state of genetic testing for the 13 distinct entities detailed and the relative diagnostic, prognostic, and therapeutic impact of the genetic test result for each entity. It does not focus on the therapeutic management of the various channelopathies and cardiomyopathies. Treatment/ management issues are only discussed for those diseases (i.e., LQTS, HCM, DCM + CCD, RCM) in which the genetic test result could potentially influence treatment considerations.
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