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HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

Michael John Ackerman, Silvia Giuliana Priori, Stephan Willems, Charles I. Berul, Ramón Brugada, Hugh G Calkins, A. John Camm, Patrick T. Ellinor, Michael H. Gollob, Robert Murray Hamilton, Ray E. Hershberger, Daniel Philip Judge, Hervé Le Marec, William John McKenna, Eric Schulze‐Bahr, Christopher Semsarian, Jeffrey Allen Towbin, Hugh C Watkins, Arthur A.M. Wilde, Christian Wolpert, Douglas Peter Zipes

📄 Abstract

PreambleThis 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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