European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
出版年份 2022 全文链接
标题
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
作者
关键词
-
出版物
EUROPACE
Volume -, Issue -, Pages -
出版商
Oxford University Press (OUP)
发表日期
2022-04-04
DOI
10.1093/europace/euac030
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Importance of genetic testing in unexplained cardiac arrest
- (2022) Steffany Grondin et al. EUROPEAN HEART JOURNAL
- Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
- (2021) Francesco Mazzarotto et al. GENETICS IN MEDICINE
- Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease
- (2021) Ruo-Gu Li et al. HEART RHYTHM
- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
- (2021) Andrew R. Harper et al. NATURE GENETICS
- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
- (2021) Rafik Tadros et al. NATURE GENETICS
- Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome
- (2021) Steven M. Dotzler et al. CIRCULATION
- Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
- (2021) Sophie Garnier et al. EUROPEAN HEART JOURNAL
- The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study
- (2021) Fionnuala Mone et al. FETAL DIAGNOSIS AND THERAPY
- Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
- (2021) Christopher M. Richmond et al. GENETICS IN MEDICINE
- The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation
- (2021) Samuel A. Lambert et al. NATURE GENETICS
- Cardiac ryanodine receptor calcium release deficiency syndrome
- (2021) Bo Sun et al. Science Translational Medicine
- Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features
- (2021) Alice Ghidoni et al. Circulation-Genomic and Precision Medicine
- Environmental Risk Factors and Congenital Heart Disease: An Umbrella Review of 165 Systematic Reviews and Meta-Analyses With More Than 120 Million Participants
- (2021) Tie-Ning Zhang et al. Frontiers in Cardiovascular Medicine
- An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
- (2021) Elizabeth Jordan et al. CIRCULATION
- ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
- (2021) David T. Miller et al. GENETICS IN MEDICINE
- A new era of genetic testing in congenital heart disease: A review
- (2021) Ansley M. Morrish et al. TRENDS IN CARDIOVASCULAR MEDICINE
- An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework
- (2021) Cynthia A. James et al. Circulation-Genomic and Precision Medicine
- Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations
- (2021) Yanhui Li et al. Circulation-Arrhythmia and Electrophysiology
- Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction
- (2021) Tom E Verstraelen et al. EUROPEAN HEART JOURNAL
- Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
- (2021) Peter J Schwartz et al. EUROPEAN HEART JOURNAL
- Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes
- (2021) Zachary T. Yoneda et al. JAMA Cardiology
- Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association
- (2021) Andrew P. Landstrom et al. Circulation-Genomic and Precision Medicine
- Myopathic Cardiac Genotypes Increase Risk for Myocarditis
- (2021) Amy R. Kontorovich et al. JACC-Basic to Translational Science
- Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
- (2021) Roddy Walsh et al. EUROPEAN HEART JOURNAL
- A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
- (2021) Sahej Bains et al. HEART RHYTHM
- Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants
- (2021) Zhong-He Zhang et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome
- (2021) Thomas M. Roston et al. JAMA Cardiology
- An International Multicenter Evaluation of Type 5 Long QT Syndrome
- (2020) Jason D. Roberts et al. CIRCULATION
- An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
- (2020) Arnon Adler et al. CIRCULATION
- Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
- (2020) Francesco Mazzarotto et al. CIRCULATION
- Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors
- (2020) John R Giudicessi et al. EUROPACE
- Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease
- (2020) Joshua Elliott et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease
- (2020) Jonathan D. Mosley et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A brief history of human disease genetics
- (2020) Melina Claussnitzer et al. NATURE
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
- (2020) Sonia Shah et al. Nature Communications
- Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis
- (2020) Laura S. Raschwitz et al. Frontiers in Genetics
- MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes
- (2020) Yee-Ki Lee et al. CARDIOVASCULAR RESEARCH
- Heritable arrhythmias associated with abnormal function of cardiac potassium channels
- (2020) Lia Crotti et al. CARDIOVASCULAR RESEARCH
- A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy
- (2020) Anastasia Miron et al. CIRCULATION
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
- (2020) Najim Lahrouchi et al. CIRCULATION
- The Effect of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Inhibition on the Risk of Venous Thromboembolism
- (2020) Nicholas A. Marston et al. CIRCULATION
- The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy
- (2020) Cynthia A James et al. EUROPEAN HEART JOURNAL
- When genetic burden reaches threshold
- (2020) Roddy Walsh et al. EUROPEAN HEART JOURNAL
- The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
- (2020) Amber E. L. van Nisselrooij et al. GENETICS IN MEDICINE
- Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
- (2020) Andrea Mazzanti et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review
- (2020) F. Mone et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
- (2020) Nicola Whiffin et al. Nature Communications
- Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy
- (2020) Isabelle Marey et al. Open Medicine
- Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease
- (2020) Dan Hu et al. EBioMedicine
- The QTc-Polygenic Risk Score (QTc-PRS) and its Contribution to Type 1, Type 2, and Type 3 Long QT Syndrome in Probands and Genotype-Positive Family Members
- (2020) Kari L. Turkowski et al. Circulation-Genomic and Precision Medicine
- In Children and Adolescents From Brugada Syndrome–Families, Only SCN5A Mutation Carriers Develop a Type-1 ECG Pattern Induced By Fever
- (2020) Puck J. Peltenburg et al. CIRCULATION
- An International Multi-Center Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 - Catecholaminergic Polymorphic Ventricular Tachycardia
- (2020) Kevin Ng et al. CIRCULATION
- Cardiac Emerinopathy: A Non-syndromic Nuclear Envelopathy with Increased Risk of Thromboembolic Stroke due to Progressive Atrial Standstill and Left Ventricular Non-compaction
- (2020) Taisuke Ishikawa et al. Circulation-Arrhythmia and Electrophysiology
- Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria
- (2020) Domenico Corrado et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Distinct mechanisms mediate pacemaker dysfunction associated with catecholaminergic polymorphic ventricular tachycardia mutations: Insights from computational modeling
- (2020) Limor Arbel-Ganon et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
- (2020) Angela Lopez-Sainz et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest
- (2020) Cynthia Rucinski et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors
- (2020) Andrew V. Anzalone et al. NATURE BIOTECHNOLOGY
- First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience
- (2020) Sonia Migliorini et al. PRENATAL DIAGNOSIS
- Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques
- (2020) José Luiz Barros Pena et al. European Heart Journal-Cardiovascular Imaging
- Inherited cardiac arrhythmias
- (2020) Peter J. Schwartz et al. Nature Reviews Disease Primers
- ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients
- (2020) Tiina Heliö et al. ESC Heart Failure
- De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease
- (2020) Marko T. Boskovski et al. Circulation-Genomic and Precision Medicine
- Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association
- (2020) Kiran Musunuru et al. Circulation-Genomic and Precision Medicine
- Exercise Training-Induced Repolarization Abnormalities Masquerading as Congenital Long QT Syndrome
- (2020) Federica Dagradi et al. CIRCULATION
- Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
- (2020) Roddy Walsh et al. GENETICS IN MEDICINE
- Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective
- (2020) Gillian M. Blue et al. Heart Lung and Circulation
- 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families
- (2020) Martin K. Stiles et al. HEART RHYTHM
- “Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest
- (2020) Julia C. Isbister et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Low rate of life‐threatening events and limitations in predicting invasive and noninvasive markers of symptoms in a cohort of type 1 Brugada syndrome patients: Data and insights from the GenBra registry
- (2020) Luciana Sacilotto et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy
- (2020) Alexandros Protonotarios et al. CANADIAN JOURNAL OF CARDIOLOGY
- Sudden Cardiac Death Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy
- (2020) Julia Cadrin-Tourigny et al. Circulation-Arrhythmia and Electrophysiology
- Life-threatening arrhythmias with autosomal recessive TECRL variants
- (2020) Gregory Webster et al. EUROPACE
- Brugada syndrome genetics is associated with phenotype severity
- (2020) Giuseppe Ciconte et al. EUROPEAN HEART JOURNAL
- Long term clinical outcomes associated with CMR quantified isolated left ventricular non-compaction in adults
- (2020) Giuseppe Femia et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
- (2020) Yanushi D. Wijeyeratne et al. Circulation-Genomic and Precision Medicine
- Inherited arrhythmia syndrome predisposing to sudden cardiac death
- (2020) Yun Gi Kim et al. KOREAN JOURNAL OF INTERNAL MEDICINE
- Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect
- (2020) F. Qiao et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers
- (2019) Marine Thuillot et al. EUROPEAN JOURNAL OF HEART FAILURE
- Genetic architecture of laterality defects revealed by whole exome sequencing
- (2019) Alexander H. Li et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk?
- (2019) Yihan Yang et al. Frontiers in Physiology
- Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France
- (2019) M. Hureaux et al. PRENATAL DIAGNOSIS
- From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2
- (2019) Peter J Schwartz et al. EUROPEAN HEART JOURNAL
- Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular Targets in Bradyarrhythmias and Atrial Fibrillation
- (2019) Noriaki Yamada et al. CIRCULATION
- Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease
- (2019) Babken Asatryan et al. AMERICAN JOURNAL OF CARDIOLOGY
- Molecular autopsy implicates primary carnitine deficiency in sudden unexplained death and reversible short QT syndrome
- (2019) Roselle Gélinas et al. CANADIAN JOURNAL OF CARDIOLOGY
- Mexiletine Shortens the QT Interval in Patients With Potassium Channel–Mediated Type 2 Long QT Syndrome
- (2019) J. Martijn Bos et al. Circulation-Arrhythmia and Electrophysiology
- Molecular and genetic insights into progressive cardiac conduction disease
- (2019) Babken Asatryan et al. EUROPACE
- A systematic review and meta-analysis of the prevalence of left ventricular non-compaction in adults
- (2019) Samantha B Ross et al. EUROPEAN HEART JOURNAL
- Treatment of cardiac transthyretin amyloidosis: an update
- (2019) Michele Emdin et al. EUROPEAN HEART JOURNAL
- 2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy
- (2019) Jeffrey A. Towbin et al. HEART RHYTHM
- Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
- (2019) Karim Wahbi et al. CIRCULATION
- Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy
- (2019) Pablo Garcia-Pavia et al. CIRCULATION
- Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives
- (2019) Gabrielle Norrish et al. CIRCULATION
- FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
- (2019) Flavie Ader et al. CLINICAL GENETICS
- Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?
- (2019) Myriam Lafreniere-Roula et al. EUROPEAN HEART JOURNAL
- Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest
- (2019) Christian van der Werf et al. EUROPEAN HEART JOURNAL
- Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
- (2019) Lia Crotti et al. EUROPEAN HEART JOURNAL
- European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
- (2019) Florence Fellmann et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A de novo gain-of-function KCND3 mutation in early repolarization syndrome
- (2019) Koichiro Takayama et al. HEART RHYTHM
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
- (2019) Luca Brunelli et al. Molecular Genetics & Genomic Medicine
- Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association
- (2019) Ferhaan Ahmad et al. Circulation-Genomic and Precision Medicine
- Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance
- (2019) John R. Giudicessi et al. Circulation-Genomic and Precision Medicine
- Mapping and Ablation of Ventricular Fibrillation Associated with Early Repolarization Syndrome
- (2019) Koonlawee Nademanee et al. CIRCULATION
- Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated with Cardiac Morphogenesis and Heart Failure Development
- (2019) Nay Aung et al. CIRCULATION
- Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores
- (2019) Rafik Tadros et al. EUROPEAN HEART JOURNAL
- The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy
- (2019) Najim Lahrouchi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy
- (2019) Marta Gigli et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo
- (2019) Freyja H.M. van Lint et al. Circulation-Genomic and Precision Medicine
- Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial
- (2019) Nicholas A. Marston et al. CIRCULATION
- Patients with High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit from Alirocumab Treatment in the Odyssey Outcomes Trial
- (2019) Amy Damask et al. CIRCULATION
- 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary
- (2019) Jeffrey A. Towbin et al. HEART RHYTHM
- Review: Danon disease: Review of natural history and recent advances
- (2019) G. Cenacchi et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy
- (2019) M. Akhtar et al. Current Cardiology Reports
- Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation
- (2019) William R. Goodyer et al. Circulation-Genomic and Precision Medicine
- Familial Dilated Cardiomyopathy
- (2019) Stacey Peters et al. Heart Lung and Circulation
- Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing
- (2018) John R. Giudicessi et al. CIRCULATION
- Importance of Variant Interpretation in Whole-Exome Molecular Autopsy
- (2018) Garrett W. Shanks et al. CIRCULATION
- Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
- (2018) S. Mohsen Hosseini et al. CIRCULATION
- Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias
- (2018) Job A J Verdonschot et al. EUROPEAN HEART JOURNAL
- OUP accepted manuscript
- (2018) EUROPEAN HEART JOURNAL
- Emerging therapeutic targets in the short QT syndrome
- (2018) Jules C Hancox et al. EXPERT OPINION ON THERAPEUTIC TARGETS
- ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
- (2018) Bruce D Gelb et al. GENETICS IN MEDICINE
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- (2018) Melissa A Kelly et al. GENETICS IN MEDICINE
- Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS)
- (2018) Anat Milman et al. HEART RHYTHM
- The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?
- (2018) Jaakko T. Leinonen et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase
- (2018) C.I. Van Capelle et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome
- (2018) Andrea Mazzanti et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Genetic Etiology for Alcohol-Induced Cardiac Toxicity
- (2018) James S. Ware et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
- (2018) Jaap I. van Waning et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The Diagnostic Yield of Brugada Syndrome After Sudden Death With Normal Autopsy
- (2018) Michael Papadakis et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
- (2018) Richard D. Bagnall et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Multi-ethnic genome-wide association study for atrial fibrillation
- (2018) Carolina Roselli et al. NATURE GENETICS
- Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
- (2018) Merrill D. Benson et al. NEW ENGLAND JOURNAL OF MEDICINE
- A homozygous SCN5A mutation associated with atrial standstill and sudden death
- (2018) Reina Bianca Tan et al. PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
- Ethical considerations in prenatal testing: Genomic testing and medical uncertainty
- (2018) Anastasia Richardson et al. Seminars in Fetal & Neonatal Medicine
- The genetic architecture of long QT syndrome: A critical reappraisal
- (2018) John R. Giudicessi et al. TRENDS IN CARDIOVASCULAR MEDICINE
- First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial
- (2018) K. O. Kagan et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system
- (2018) Julia Ramírez et al. Nature Communications
- Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes
- (2018) Mark W. Russell et al. Journal of the American Heart Association
- Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital
- (2018) Natalie S. Hauser et al. Molecular Genetics & Genomic Medicine
- Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry
- (2018) Kenzaburo Nakajima et al. CIRCULATION JOURNAL
- Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
- (2018) Amit V. Khera et al. NATURE GENETICS
- Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy
- (2018) Mathew S. Maurer et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clinical and Genetic Complexities of Left Ventricular Noncompaction
- (2018) Samantha Barratt Ross et al. JAMA Cardiology
- Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy
- (2018) Carolyn Y. Ho et al. CIRCULATION
- Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity
- (2018) Pascale Richard et al. CLINICAL GENETICS
- Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
- (2018) Clémence Vanlerberghe et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
- (2018) Kate L. Thomson et al. GENETICS IN MEDICINE
- Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
- (2018) Dimuthu Alankarage et al. GENETICS IN MEDICINE
- Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management
- (2018) Stacey Peters et al. Heart Lung and Circulation
- Depolarization versus repolarization abnormality underlying inferolateral J-wave syndromes: New concepts in sudden cardiac death with apparently normal hearts
- (2018) Michel Haïssaguerre et al. HEART RHYTHM
- The narrow-sense and common single nucleotide polymorphism heritability of early repolarization
- (2018) Rachel Bastiaenen et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation
- (2018) Seung Hoan Choi et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
- (2018) Khurram Liaqat et al. JOURNAL OF HUMAN GENETICS
- 2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: Executive Summary
- (2018) Fred M. Kusumoto et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Cardiac Phenotypes in Hereditary Muscle Disorders
- (2018) Eloisa Arbustini et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
- (2018) Juan Pablo Ochoa et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults
- (2018) Michael Inouye et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Trans-ethnic association study of blood pressure determinants in over 750,000 individuals
- (2018) Ayush Giri et al. NATURE GENETICS
- Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling
- (2018) Dominic G. Whittaker et al. Frontiers in Physiology
- Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model
- (2017) Ashish Mehta et al. EUROPEAN HEART JOURNAL
- Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
- (2017) Nina Eide Hasselberg et al. EUROPEAN HEART JOURNAL
- Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans
- (2017) Joel N. Buxbaum et al. GENETICS IN MEDICINE
- Heritability of resting heart rate and association with mortality in middle-aged and elderly twins
- (2017) Magnus T Jensen et al. HEART
- Risk of arrhythmic events in drug-induced Brugada syndrome
- (2017) Najim Lahrouchi et al. HEART RHYTHM
- A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia
- (2017) Yusuke Fujii et al. HEART RHYTHM
- 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: Executive Summary
- (2017) Sana M. Al-Khatib et al. HEART RHYTHM
- Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation
- (2017) Marloes Visser et al. HEART RHYTHM
- Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome
- (2017) Andrea Mazzanti et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome
- (2017) Najim Lahrouchi et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation
- (2017) Akiko Seki et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease
- (2017) Siddhartha Jaiswal et al. NEW ENGLAND JOURNAL OF MEDICINE
- Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome
- (2017) Kasper Thorsen et al. Nature Communications
- Mammalian γ2 AMPK regulates intrinsic heart rate
- (2017) Arash Yavari et al. Nature Communications
- Pathogenicity of Hypertrophic Cardiomyopathy Variants
- (2017) Jodie Ingles et al. Circulation-Cardiovascular Genetics
- Lamin A/C -Related Cardiac DiseaseCLINICAL PERSPECTIVE
- (2017) Edgar T. Hoorntje et al. Circulation-Cardiovascular Genetics
- Genetic Testing in the Evaluation of Unexplained Cardiac ArrestCLINICAL PERSPECTIVE
- (2017) Greg Mellor et al. Circulation-Cardiovascular Genetics
- Nonfamilial Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE
- (2017) Jodie Ingles et al. Circulation-Cardiovascular Genetics
- Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
- (2017) Francisco José Bermúdez-Jiménez et al. CIRCULATION
- Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis
- (2016) Erik Iwarsson et al. ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
- GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
- (2016) Elisabeth M. Lodder et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical Aspects of Type 3 Long-QT SyndromeClinical Perspective
- (2016) Arthur A.M. Wilde et al. CIRCULATION
- Pronounced Shortening of QT Interval With Mexiletine Infusion Test in Patients With Type 3 Congenital Long QT Syndrome
- (2016) Moritoshi Funasako et al. CIRCULATION JOURNAL
- The Prevalence and Significance of the Early Repolarization Pattern in Sudden Arrhythmic Death Syndrome Families
- (2016) Greg Mellor et al. Circulation-Arrhythmia and Electrophysiology
- Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
- (2016) Stephanie LaHaye et al. Circulation-Cardiovascular Genetics
- Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the YoungCLINICAL PERSPECTIVE
- (2016) Jason H. Anderson et al. Circulation-Cardiovascular Genetics
- Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals
- (2016) Elham Kayvanpour et al. Clinical Research in Cardiology
- TECRL , a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT
- (2016) Harsha D Devalla et al. EMBO Molecular Medicine
- Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases
- (2016) Yigal M. Pinto et al. EUROPEAN HEART JOURNAL
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
- (2016) Karim Kouz et al. GENETICS IN MEDICINE
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- Mitochondrial disease and the heart
- (2016) Giuseppe Limongelli et al. HEART
- Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers
- (2016) Abhishek C. Sawant et al. HEART RHYTHM
- Carnitine deficiency induces a short QT syndrome
- (2016) Julien Roussel et al. HEART RHYTHM
- A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia
- (2016) Belinda Gray et al. HEART RHYTHM
- Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I
- (2016) Xavier Daumy et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Molecular Autopsy for Sudden Unexpected Death
- (2016) Ali Torkamani et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- DIAGNOSTIC EXOME SEQUENCING IN PEDIATRIC PATIENTS WITH CONGENITAL HEART DISEASE
- (2016) Zoe Powis et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3
- (2016) Andrea Mazzanti et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease
- (2016) Maria Gallego-Delgado et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
- (2016) Martín F. Ortiz-Genga et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene
- (2016) Philippe Maury et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers
- (2016) Saurabh Kumar et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Dystrophin-Deficient Cardiomyopathy
- (2016) Forum Kamdar et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Predicting the Unpredictable
- (2016) Peter J. Schwartz et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The Promise and Peril of Precision Medicine
- (2016) Jaeger P. Ackerman et al. MAYO CLINIC PROCEEDINGS
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
- (2016) Alejandro Sifrim et al. NATURE GENETICS
- Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
- (2016) James S. Ware et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Prospective Study of Sudden Cardiac Death among Children and Young Adults
- (2016) Richard D. Bagnall et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic Misdiagnoses and the Potential for Health Disparities
- (2016) Arjun K. Manrai et al. NEW ENGLAND JOURNAL OF MEDICINE
- A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation
- (2016) Nathan Orr et al. Nature Communications
- Pre-participation cardiovascular evaluation for athletic participants to prevent sudden death: Position paper from the EHRA and the EACPR, branches of the ESC. Endorsed by APHRS, HRS, and SOLAECE
- (2016) Lluís Mont et al. European Journal of Preventive Cardiology
- Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
- (2016) Stephanie LaHaye et al. Circulation-Cardiovascular Genetics
- Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the YoungCLINICAL PERSPECTIVE
- (2016) Jason H. Anderson et al. Circulation-Cardiovascular Genetics
- The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
- (2015) Yaojuan Jia et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem
- (2015) Daniela Righi et al. CARDIOLOGY IN THE YOUNG
- A Century of Cholesterol and Coronaries: From Plaques to Genes to Statins
- (2015) Joseph L. Goldstein et al. CELL
- Risk of Cardiomyopathy in Younger Persons With a Family History of Death from CardiomyopathyCLINICAL PERSPECTIVE
- (2015) Mattis F. Ranthe et al. CIRCULATION
- Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation
- (2015) G. M. De Ferrari et al. CIRCULATION
- Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome
- (2015) H. M. Altmann et al. CIRCULATION
- Loss-of-FunctionSCN5AMutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture
- (2015) David Y. Chiang et al. Circulation-Arrhythmia and Electrophysiology
- Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE
- (2015) Judith A. Groeneweg et al. Circulation-Cardiovascular Genetics
- Usefulness of exercise test in the diagnosis of short QT syndrome
- (2015) C. Giustetto et al. EUROPACE
- Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
- (2015) Aditya Bhonsale et al. EUROPEAN HEART JOURNAL
- The genetics underlying acquired long QT syndrome: impact for genetic screening
- (2015) Hideki Itoh et al. EUROPEAN HEART JOURNAL
- Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives
- (2015) C. Semsarian et al. EUROPEAN HEART JOURNAL
- The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
- (2015) J. Mogensen et al. EUROPEAN HEART JOURNAL
- 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
- (2015) Silvia G. Priori et al. EUROPEAN HEART JOURNAL
- Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
- (2015) Ahmed A. Alfares et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Everybody has Brugada syndrome until proven otherwise?
- (2015) Sami Viskin et al. HEART RHYTHM
- Non-coding genetic variants in human disease: Figure 1.
- (2015) Feng Zhang et al. HUMAN MOLECULAR GENETICS
- Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome
- (2015) Daniel Toshio Harrell et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
- (2015) Dominique P Germain et al. JOURNAL OF MEDICAL GENETICS
- Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials
- (2015) Jessica L Mega et al. LANCET
- A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
- (2015) Majid Nikpay et al. NATURE GENETICS
- Gene therapy to treat cardiac arrhythmias
- (2015) Rossana Bongianino et al. Nature Reviews Cardiology
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a NovelNKX2-5Mutation and a Review of the Literature
- (2015) Sabrina Gade Ellesøe et al. Congenital Heart Disease
- Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE
- (2015) Judith A. Groeneweg et al. Circulation-Cardiovascular Genetics
- Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
- (2015) Juan Geng et al. BMC GENOMICS
- Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias
- (2014) H. Swan et al. Circulation-Cardiovascular Genetics
- Atlas of the clinical genetics of human dilated cardiomyopathy
- (2014) Jan Haas et al. EUROPEAN HEART JOURNAL
- Endothelin 1 gene as a modifier in dilated cardiomyopathy
- (2014) Lova Satyanarayna Matsa et al. GENE
- EHRA/HRS/APHRS Expert Consensus on Ventricular Arrhythmias
- (2014) Christian Torp Pedersen et al. HEART RHYTHM
- HRS Expert Consensus Statement on the Diagnosis and Management of Arrhythmias Associated With Cardiac Sarcoidosis
- (2014) David H. Birnie et al. HEART RHYTHM
- TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy
- (2014) Jeanne L. Theis et al. HUMAN MOLECULAR GENETICS
- Mechanisms underlying the development of the electrocardiographic and arrhythmic manifestations of early repolarization syndrome
- (2014) István Koncz et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
- (2014) Gillian M. Blue et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy
- (2014) Annalisa Milano et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
- (2014) Philippe Chetaille et al. NATURE GENETICS
- Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
- (2014) Rafael Valdés-Mas et al. Nature Communications
- Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants
- (2013) Lia Crotti et al. CIRCULATION
- Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy
- (2013) Ilaria Rigato et al. Circulation-Cardiovascular Genetics
- The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths
- (2013) Sofia V. de Noronha et al. EUROPACE
- Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
- (2013) Jodie Ingles et al. GENETICS IN MEDICINE
- Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
- (2013) Jipin Das K et al. GENETICS IN MEDICINE
- HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes
- (2013) Silvia G. Priori et al. HEART RHYTHM
- Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardia
- (2013) Maria Vittoria Matassini et al. HEART RHYTHM
- Genomics in Cardiovascular Disease
- (2013) Robert Roberts et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Electrical Storm in Idiopathic Ventricular Fibrillation Is Associated With Early Repolarization
- (2013) Yoshifusa Aizawa et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers
- (2013) Cynthia A. James et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy
- (2013) Shenghua Liu et al. MOLECULAR GENETICS AND METABOLISM
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
- (2013) Connie R Bezzina et al. NATURE GENETICS
- Absolute quantification by droplet digital PCR versus analog real-time PCR
- (2013) Christopher M Hindson et al. NATURE METHODS
- Genetic testing for inherited cardiac disease
- (2013) Arthur A. M. Wilde et al. Nature Reviews Cardiology
- KCNJ2mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia
- (2013) Makarand Deo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy
- (2013) Jianming Jiang et al. SCIENCE
- Brugada Phenocopy: New Terminology and Proposed Classification
- (2012) Adrian Baranchuk et al. ANNALS OF NONINVASIVE ELECTROCARDIOLOGY
- Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events
- (2012) Alon Barsheshet et al. CIRCULATION
- Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents
- (2012) Morten K. Jensen et al. CIRCULATION
- Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2012) Christian van der Werf et al. Circulation-Arrhythmia and Electrophysiology
- 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
- About Brugada syndrome and its prevalence
- (2012) Pieter G. Postema EUROPACE
- 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
- 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
- Genetics of Hypertrophic Cardiomyopathy After 20 Years
- (2012) Barry J. Maron 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
- Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing
- (2012) David J. Tester et al. MAYO CLINIC PROCEEDINGS
- PGD for inherited cardiac diseases
- (2012) Anver Kuliev et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Derivation and Validation of a Simple Exercise-Based Algorithm for Prediction of Genetic Testing in Relatives of LQTS Probands
- (2011) Raymond W. Sy et al. CIRCULATION
- Impact of Genetic Insights Into Mendelian Disease on Cardiovascular Clinical Practice
- (2011) Luke Kim et al. CIRCULATION
- Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy
- (2011) Giovanni Quarta et al. CIRCULATION
- QTc Behavior During Exercise and Genetic Testing for the Long-QT Syndrome
- (2011) Peter J. Schwartz et al. CIRCULATION
- Phenotypic Manifestations of Mutations in Genes Encoding Subunits of Cardiac Potassium Channels
- (2011) Wataru Shimizu et al. CIRCULATION RESEARCH
- Electrocardiographic Characteristics and SCN5A Mutations in Idiopathic Ventricular Fibrillation Associated With Early Repolarization
- (2011) Hiroshi Watanabe et al. Circulation-Arrhythmia and Electrophysiology
- Heritability of Early Repolarization
- (2011) Wibke Reinhard 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
- Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects
- (2011) J. Breckpot et al. CYTOGENETIC AND GENOME RESEARCH
- Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments
- (2011) C. van der Werf et al. EUROPACE
- 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
- Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
- (2011) C. Templin et al. EUROPEAN HEART JOURNAL
- A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
- (2011) Eric Villard et al. EUROPEAN HEART JOURNAL
- Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey
- (2011) P. Elliott et al. HEART
- Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia
- (2011) Raymond W. Sy et al. HEART RHYTHM
- HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
- (2011) Michael J. Ackerman et al. HEART RHYTHM
- Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8
- (2011) Hector Barajas-Martínez et al. HEART RHYTHM
- Sentinel Symptoms in Patients with Unexplained Cardiac Arrest: From the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER)
- (2011) ANDREW D. KRAHN et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- Prevalence of J-Point Elevation in Sudden Arrhythmic Death Syndrome Families
- (2011) Laurence M. Nunn et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- 2011 ACCF/AHA/HRS Focused Updates Incorporated Into the ACC/AHA/ESC 2006 Guidelines for the Management of Patients With Atrial Fibrillation
- (2011) Valentin Fuster et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The Short QT Syndrome
- (2011) Michael H. Gollob et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Long-Term Follow-Up of Patients With Short QT Syndrome
- (2011) Carla Giustetto et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Variation in genome-wide mutation rates within and between human families
- (2011) Donald F Conrad et al. NATURE GENETICS
- A rare variant in MYH6 is associated with high risk of sick sinus syndrome
- (2011) Hilma Holm et al. NATURE GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
- (2011) Karim Wahbi et al. NEUROMUSCULAR DISORDERS
- 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
- Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome
- (2010) V. Probst et al. CIRCULATION
- Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
- (2010) Veronique Fressart et al. EUROPACE
- Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
- (2010) P. Charron et al. EUROPEAN HEART JOURNAL
- DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
- (2010) S. Wordsworth et al. EUROPEAN HEART JOURNAL
- 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
- Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation
- (2010) Eduardo Back Sternick et al. HEART RHYTHM
- A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease
- (2010) Axel Neu et al. HUMAN MUTATION
- 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
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Several common variants modulate heart rate, PR interval and QRS duration
- (2010) Hilma Holm et al. NATURE GENETICS
- Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction
- (2010) Nona Sotoodehnia et al. NATURE GENETICS
- Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
- (2010) Shahid M Baig et al. NATURE NEUROSCIENCE
- 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
- Copy Number Variation in Human Health, Disease, and Evolution
- (2009) Feng Zhang et al. Annual Review of Genomics and Human Genetics
- Gain-of-function mutation of Na v 1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing
- (2009) Qiuju Li et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- High Efficacy of β-Blockers in Long-QT Syndrome Type 1
- (2009) G. Michael Vincent et al. CIRCULATION
- Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2009) Meiso Hayashi et al. CIRCULATION
- Prevalence of the Congenital Long-QT Syndrome
- (2009) Peter J. Schwartz et al. CIRCULATION
- SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
- (2009) Vincent Probst et al. Circulation-Cardiovascular Genetics
- Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics
- (2009) EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- Early repolarization associated with sudden death: Insights from noninvasive electrocardiographic imaging
- (2009) Subham Ghosh et al. HEART RHYTHM
- Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy
- (2009) Barry J. Maron JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- 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
- AHA/ACCF/HRS Recommendations for the Standardization and Interpretation of the Electrocardiogram
- (2009) Borys Surawicz et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- 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
- Genotype-Phenotype Aspects of Type 2 Long QT Syndrome
- (2009) Wataru Shimizu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
- (2009) Sekar Kathiresan et al. NATURE GENETICS
- Long-Term Outcome Associated with Early Repolarization on Electrocardiography
- (2009) Jani T. Tikkanen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances
- (2009) T. LaFramboise NUCLEIC ACIDS RESEARCH
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Malignant Perinatal Variant of Long-QT Syndrome Caused by a Profoundly Dysfunctional Cardiac Sodium Channel
- (2008) Dao W. Wang et al. Circulation-Arrhythmia and Electrophysiology
- Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
- (2008) Itsik Pe'er et al. GENETIC EPIDEMIOLOGY
- Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
- (2008) J P Kaski et al. HEART
- Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
- (2008) Christian Geier et al. HUMAN MOLECULAR GENETICS
- Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C
- (2008) Andrew P. Landstrom et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- J-Point Elevation in Survivors of Primary Ventricular Fibrillation and Matched Control Subjects
- (2008) Raphael Rosso et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- Augmentation of J Waves and Electrical Storms in Patients with Early Repolarization
- (2008) Gi-Byoung Nam et al. NEW ENGLAND JOURNAL OF MEDICINE
- Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation
- (2008) Denice M. Hodgson-Zingman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events
- (2008) Sekar Kathiresan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Sudden Cardiac Arrest Associated with Early Repolarization
- (2008) Michel Haïssaguerre et al. NEW ENGLAND JOURNAL OF MEDICINE
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