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Genetics of arrhythmias

Latest Update December 2013


A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT.
Cell 1995;80:795-803.

First article that linked mutations in an ion channel gene to an arrhythmogenic condition. It started the era of “channelopathies”, as inherited disorders like long-QT syndrome, Brugada syndrome, short QT syndrome and others have since been referred to.

Molecular and cellular mechanisms of cardiac arrhythmias.
Keating MT, Sanguinetti MC.
Cell 2001;104:569-580.
Extensive review on heriditary arrhythmogenic conditions, written by one of the pioneers of human cardiogenetics.

Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline.
Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MRG, Towbin JA.
J Cardiac Fail 2009;15:83e97.

The paper covers the Heart Failure Society of America practice guideline for clinical screening, counseling and molecular genetic testing in cardiomyopathies, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular dysplasia (ARVD), left ventricular noncompaction (LVNC), restrictive cardiomyopathy (RCM), and cardiomyopathies associated with extracardiac manifestations.

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L.
 European Heart Journal 2010; 31: 2715–2728.

The paper is a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases which covers general genetic concepts in cardiomyopathies and gives recommendations for clinical screening in relatives and genetic testing in patients and family members.

Progress with genetic cardiomyopathies. Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.                                                Hershberger RE, Cowan J, Morales A, Siegfried JD.
Circ Heart Fail 2009;2:253-261.

This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy with salient features, of hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy, regarding genetic etiology, genetic testing, and genetic counseling.

Long QT syndrome.
Goldenberg I, Moss AJ.
J Am Coll Cardiol 2008;51:2291–300.

This review discusses major issues in long QT syndrome: genetic and molecular basis, diagnosis, clinical assessment, role of genetic testing, clinical course, phenotype-genotype correlations, and therapeutic considerations.

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies.
Ackerman MJ, Priori SG, Willems S, Berul C, MD, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP
Europace 2011; 13: 1077–1109.

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. The 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.