HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

Genetic Testing for Potentially Lethal, Highly Treatable Inherited Cardiomyopathies/Channelopathies in Clinical Practice

(2011) David J. Tester et al.   CIRCULATION

The Short QT Syndrome

(2011) Michael H. Gollob et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

(2010) Yanzong Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arrhythmogenic Right Ventricular Cardiomyopathy: A Paradigm of Overlapping Disorders

(2010) Jeffrey A. Towbin   ANNALS OF NONINVASIVE ELECTROCARDIOLOGY

Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment

(2010) Srijita Sen-Chowdhry et al.   Annual Review of Medicine

Who Are the Long-QT Syndrome Patients Who Receive an Implantable Cardioverter-Defibrillator and What Happens to Them?

(2010) Peter J. Schwartz et al.   CIRCULATION

Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome

(2010) V. Probst et al.   CIRCULATION

Differences Between Out-of-Hospital Cardiac Arrest in Residential and Public Locations and Implications for Public-Access Defibrillation

(2010) Fredrik Folke et al.   CIRCULATION

Research Priorities in Hypertrophic Cardiomyopathy

(2010) Thomas Force et al.   CIRCULATION

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy

(2010) Khalid Abozguia et al.   CIRCULATION

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

(2010) Yvonne M. Hoedemaekers et al.   Circulation-Cardiovascular Genetics

Mutational Heterogeneity, Modifier Genes, and Environmental Influences Contribute to Phenotypic Diversity of Arrhythmogenic Cardiomyopathy

(2010) Srijita Sen-Chowdhry et al.   Circulation-Cardiovascular Genetics

Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease

(2010) Hui Liu et al.   Circulation-Cardiovascular Genetics

Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction

(2010) A. Jacquier et al.   EUROPEAN HEART JOURNAL

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

(2010) S. Wordsworth et al.   EUROPEAN HEART JOURNAL

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

(2010) Ray E Hershberger et al.   GENETICS IN MEDICINE

Implantable cardioverter defibrillator therapy for congenital long QT syndrome: A single-center experience

(2010) Justin M. Horner et al.   HEART RHYTHM

Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in The Netherlands

(2010) Christian van der Werf et al.   HEART RHYTHM

A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease

(2010) Axel Neu et al.   HUMAN MUTATION

Repolarization Abnormalities in the Newborn

(2010) Peter J Schwartz et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

(2010) Polakit Teekakirikul et al.   JOURNAL OF CLINICAL INVESTIGATION

The Response of the QT Interval to the Brief Tachycardia Provoked by Standing

(2010) Sami Viskin et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

(2010) Francesca Girolami et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Active Cascade Screening in Primary Inherited Arrhythmia Syndromes

(2010) Nynke Hofman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Risk of Fatal Arrhythmic Events in Long QT Syndrome Patients After Syncope

(2010) Christian Jons et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dilated cardiomyopathy

(2010) John Lynn Jefferies et al.   LANCET

Common variants in KCNN3 are associated with lone atrial fibrillation

(2010) Patrick T Ellinor et al.   NATURE GENETICS

Founder mutations in the Netherlands

(2010) P. G. Postema et al.   Netherlands Heart Journal

Left Ventricular Noncompaction: A New Form of Heart Failure

(2010) Jeffrey A. Towbin   Heart Failure Clinics

Genetics of Restrictive Cardiomyopathy

(2010) Srijita Sen-Chowdhry et al.   Heart Failure Clinics

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

(2009) Marielle Alders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross-sectional cohort study

(2009) Imke Christiaans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?

(2009) Alex Hørby Christensen et al.   CARDIOLOGY

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Systematic Assessment of Patients With Unexplained Cardiac Arrest

(2009) Andrew D. Krahn et al.   CIRCULATION

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Yield of Genetic Screening in Inherited Cardiac Channelopathies

(2009) Rong Bai et al.   Circulation-Arrhythmia and Electrophysiology

Drugs and Brugada syndrome patients: Review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org)

(2009) Pieter G. Postema et al.   HEART RHYTHM

Prevalence of long and short QT in a young population of 41,767 predominantly male Swiss conscripts

(2009) Richard Kobza et al.   HEART RHYTHM

Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation

(2009) Saumya Das et al.   HEART RHYTHM

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2009) Barbara Bauce et al.   HEART RHYTHM

Genes Causing Inherited Forms of Cardiomyopathies

(2009) Matthias Paul et al.   HERZ

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2009) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I

(2009) Martin Kruse et al.   JOURNAL OF CLINICAL INVESTIGATION

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

AHA/ACCF/HRS Recommendations for the Standardization and Interpretation of the Electrocardiogram

(2009) Pentti M. Rautaharju et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

(2009) Wataru Shimizu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

(2009) Iacopo Olivotto et al.   MAYO CLINIC PROCEEDINGS

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

(2009) Daniel F Gudbjartsson et al.   NATURE GENETICS

Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry

(2009) Emelia J Benjamin et al.   NATURE GENETICS

Noninvasive Evaluation of Left Ventricular Noncompaction: What’s New in 2009?

(2009) Benjamin W. Eidem   PEDIATRIC CARDIOLOGY

Postmortem Genetic Testing for Conventional Autopsy–Negative Sudden Unexplained Death

(2008) Elisa Carturan et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Electrocardiography in Noonan syndromePTPN11 gene mutation—phenotype characterization

(2008) Ellen A. Croonen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

(2008) Andreas Perrot et al.   BASIC RESEARCH IN CARDIOLOGY

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

(2008) M.A. Simpson et al.   CARDIOLOGY

Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome

(2008) Ilan Goldenberg et al.   CIRCULATION

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION

Left Ventricular Noncompaction

(2008) Fukiko Ichida   CIRCULATION JOURNAL

Assessment of QT Intervals and Prevalence of Short QT Syndrome in Japan

(2008) Akira Funada et al.   CLINICAL CARDIOLOGY

Clinical spectrum of patients with a Brugada ECG

(2008) Steven J Fowler et al.   CURRENT OPINION IN CARDIOLOGY

The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death

(2008) R. Shi et al.   EUROPACE

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

(2008) Carey-Anne Eddy et al.   HEART RHYTHM

Familial disease with a risk of sudden death: A longitudinal study of the psychological consequences of predictive testing for long QT syndrome

(2008) Karin S.W.H. Hendriks et al.   HEART RHYTHM

ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: Executive Summary

(2008) Andrew E. Epstein et al.   HEART RHYTHM

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

(2008) Paola G. Meregalli et al.   HEART RHYTHM

Empiric quinidine therapy for asymptomatic Brugada syndrome: Time for a prospective registry

(2008) Sami Viskin et al.   HEART RHYTHM

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

(2008) Christian Geier et al.   HUMAN MOLECULAR GENETICS

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION

Cardiac potassium channel dysfunction in sudden infant death syndrome

(2008) Troy E. Rhodes et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The Effects of Candesartan on Left Ventricular Hypertrophy and Function in Nonobstructive Hypertrophic Cardiomyopathy

(2008) Martin Penicka et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Left-Dominant Arrhythmogenic Cardiomyopathy

(2008) Srijita Sen-Chowdhry et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A Novel SCN5A Gain-of-Function Mutation M1875T Associated With Familial Atrial Fibrillation

(2008) Takeru Makiyama et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

(2008) Maximilian G. Posch et al.   MOLECULAR GENETICS AND METABOLISM

Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation

(2008) Denice M. Hodgson-Zingman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sudden Cardiac Arrest Associated with Early Repolarization

(2008) Michel Haïssaguerre et al.   NEW ENGLAND JOURNAL OF MEDICINE

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

(2008) K. Ueda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary myopathies and the heart

(2008) Josef Finsterer et al.   SCANDINAVIAN CARDIOVASCULAR JOURNAL

Genetic Evaluation of Familial Cardiomyopathy

(2008) Daniel P. Judge et al.   Journal of Cardiovascular Translational Research

Pheochromocytoma

(2008) Bas Havekes et al.   Nature clinical practice. Cardiovascular medicine

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Mark M Awad et al.   Nature clinical practice. Cardiovascular medicine

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia

(2007) Lishen Shan et al.   MOLECULAR GENETICS AND METABOLISM