Genetic testing for inherited cardiac disease

Late Sodium Current Inhibition in Acquired and Inherited Ventricular (dys)function and Arrhythmias

(2013) Carol Ann Remme et al.   CARDIOVASCULAR DRUGS AND THERAPY

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

(2013) Lia Crotti et al.   CIRCULATION

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

(2013) Karin Y. van Spaendonck-Zwarts et al.   EUROPEAN JOURNAL OF HEART FAILURE

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing

(2013) Hung-Fat Tse et al.   HUMAN MOLECULAR GENETICS

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

(2013) Hui Liu et al.   PLoS One

Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

(2013) Atilano Carcavilla et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

(2012) Mette Nyegaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity

(2012) Alessandra Ruggiero et al.   CARDIOVASCULAR RESEARCH

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events

(2012) Alon Barsheshet et al.   CIRCULATION

Arrhythmogenic Right Ventricular Cardiomyopathy

(2012) Cristina Basso et al.   Circulation-Arrhythmia and Electrophysiology

Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Christian van der Werf et al.   Circulation-Arrhythmia and Electrophysiology

Brugada Syndrome

(2012) Yuka Mizusawa et al.   Circulation-Arrhythmia and Electrophysiology

A Novel Disease Gene for Brugada Syndrome

(2012) Taisuke Ishikawa et al.   Circulation-Arrhythmia and Electrophysiology

Spongious Hypertrophic Cardiomyopathy in Patients With Mutations in the Four-and-a-Half LIM Domain 1 Gene

(2012) Josepha S. Binder et al.   Circulation-Cardiovascular Genetics

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

(2012) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

(2012) KA Hodgkinson et al.   CLINICAL GENETICS

Beyond the Cardiac Myofilament: Hypertrophic Cardiomyopathy- Associated Mutations in Genes that Encode Calcium-Handling Proteins

(2012) A. P. Landstrom et al.   CURRENT MOLECULAR MEDICINE

Unexplained sudden death, focussing on genetics and family phenotyping

(2012) Hariharan Raju et al.   CURRENT OPINION IN CARDIOLOGY

Drug-induced arrhythmia: pharmacogenomic prescribing?

(2012) E. R. Behr et al.   EUROPEAN HEART JOURNAL

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

(2012) Lena Refsgaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

(2012) Felix W. Friedrich et al.   HUMAN MOLECULAR GENETICS

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

AKCNQ1Mutation Causes a High Penetrance for Familial Atrial Fibrillation

(2012) DANIEL C. BARTOS et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Cardiomyopathy in Friedreich Ataxia

(2012) R. Mark Payne et al.   JOURNAL OF CHILD NEUROLOGY

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

(2012) Lia Crotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia

(2012) Yalda Jamshidi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

(2012) Ingrid A.W. van Rijsingen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Multifocal Ectopic Purkinje-Related Premature Contractions

(2012) Gabriel Laurent et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Pathobiology of Arrhythmogenic Cardiomyopathy

(2011) Jeffrey E. Saffitz   Annual Review of Pathology-Mechanisms of Disease

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2011) Moniek G.P.J. Cox et al.   CIRCULATION

Electrocardiographic Characteristics and SCN5A Mutations in Idiopathic Ventricular Fibrillation Associated With Early Repolarization

(2011) Hiroshi Watanabe et al.   Circulation-Arrhythmia and Electrophysiology

KCNE5 ( KCNE1L ) Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation

(2011) Seiko Ohno et al.   Circulation-Arrhythmia and Electrophysiology

Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy

(2011) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes

(2011) Stefan Kääb et al.   Circulation-Cardiovascular Genetics

Long-Term Outcomes in Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Troponin T Gene

(2011) Ferdinando Pasquale et al.   Circulation-Cardiovascular Genetics

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)

(2011) M. J. Ackerman et al.   EUROPACE

Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy

(2011) I. Christiaans et al.   EUROPEAN HEART JOURNAL

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

(2011) Ahmad S. Amin et al.   EUROPEAN HEART JOURNAL

Sudden death and ion channel disease: pathophysiology and implications for management

(2011) R. Bastiaenen et al.   HEART

The emerging role of the cardiac genetic counselor

(2011) Jodie Ingles et al.   HEART RHYTHM

Key role of the molecular autopsy in sudden unexpected death

(2011) Christopher Semsarian et al.   HEART RHYTHM

The Nonlinear Structure of the Desmoplakin Plakin Domain and the Effects of Cardiomyopathy-Linked Mutations

(2011) Caezar Al-Jassar et al.   JOURNAL OF MOLECULAR BIOLOGY

Risk Factors for Recurrent Syncope and Subsequent Fatal or Near-Fatal Events in Children and Adolescents With Long QT Syndrome

(2011) Judy F. Liu 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

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

(2011) Bernard J. Gersh et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

(2010) Andrew P. Landstrom et al.   AMERICAN HEART JOURNAL

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

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

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy

(2010) Hu Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome

(2010) V. Probst et al.   CIRCULATION

SCN5A Mutation Is Associated With Early and Frequent Recurrence of Ventricular Fibrillation in Patients With Brugada Syndrome

(2010) Nobuhiro Nishii et al.   CIRCULATION JOURNAL

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

(2010) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers

(2010) Imke Christiaans et al.   EUROPACE

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

(2010) Ole Havndrup et al.   EUROPEAN JOURNAL OF HEART FAILURE

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase

(2010) Aviva Levitas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Utility of high and standard right precordial leads during ajmaline testing for the diagnosis of Brugada syndrome

(2010) M. Govindan et al.   HEART

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

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

(2010) Argelia Medeiros-Domingo et al.   HEART RHYTHM

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

(2010) Elena Burashnikov et al.   HEART RHYTHM

R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation

(2010) Daniel C. Bartos et al.   HEART RHYTHM

Active Cascade Screening in Primary Inherited Arrhythmia Syndromes

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

Polymorphisms in the NOS1APGene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome

(2010) Marta Tomás et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals

(2010) Ilan Goldenberg et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

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

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Meiso Hayashi et al.   CIRCULATION

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

Latent Genetic Backgrounds and Molecular Pathogenesis in Drug-Induced Long-QT Syndrome

(2009) Hideki Itoh et al.   Circulation-Arrhythmia and Electrophysiology

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

(2009) Juan Pablo Kaski et al.   Circulation-Cardiovascular Genetics

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

(2009) Vincent Probst et al.   Circulation-Cardiovascular Genetics

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy

(2009) Laëtitia Duboscq-Bidot et al.   EUROPEAN HEART JOURNAL

Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca2+ regulation

(2009) Marina Cerrone et al.   HEART RHYTHM

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

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

The genetic basis of long QT and short QT syndromes: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

(2009) Barry J. Maron   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Role of HCN4 channel in preventing ventricular arrhythmia

(2009) Kazuo Ueda et al.   JOURNAL OF HUMAN GENETICS

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

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

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

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

(2009) David Hassel et al.   NATURE MEDICINE

Severe Hypertrophic Cardiomyopathy in an Infant with a Novel PRKAG2 Gene Mutation: Potential Differences Between Infantile and Adult Onset Presentation

(2009) Brendan P. Kelly et al.   PEDIATRIC CARDIOLOGY

ARVC-Related Mutations in Divergent Region 3 Alter Functional Properties of the Cardiac Ryanodine Receptor

(2008) Andrea Koop et al.   BIOPHYSICAL JOURNAL

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

(2008) Ilan Goldenberg et al.   CIRCULATION

Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

(2008) Takuro Arimura et al.   CIRCULATION JOURNAL

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

(2008) Elijah R. Behr et al.   EUROPEAN HEART JOURNAL

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

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

(2008) Christian Geier et al.   HUMAN MOLECULAR GENETICS

Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATPChannel

(2008) MICHEL HAÏSSAGUERRE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY