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List of works by Michael J Ackerman

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis

scientific article

A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation

scientific article published on 25 January 2013

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation

scientific article published in March 2014

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.

scientific article published on 20 October 2016

A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathy

article

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation

scientific article

A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

scientific article published on 12 May 2009

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors

scientific article published on 3 March 2007

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy

scientific article published on 04 May 2006

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

scientific article

A mutation in telethonin alters Nav1.5 function

scientific article

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

scientific article

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

scientific article

A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood

scientific article published on 01 November 2002

A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.

scientific article

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents

scientific article published on 7 December 2011

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome

scientific article published on 17 January 2008

A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs

scientific article published on April 2004

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels ⬇️

scientific article published on September 18, 2003

Abnormal electrocardiographic findings in athletes: recognising changes suggestive of cardiomyopathy.

scientific article published on February 2013

Abnormal electrocardiographic findings in athletes: recognising changes suggestive of primary electrical disease.

scientific article published on February 2013

Acquired long QT syndrome secondary to cesium chloride supplement

scientific article published in December 2006

Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results

scientific article

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current

scientific article

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

scientific article published on 16 January 2020

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

scientific article

Anesthesia for videoscopic left cardiac sympathetic denervation in children with congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia--a case series

scientific article published on 22 March 2010

Architectural T-Wave Analysis and Identification of On-Therapy Breakthrough Arrhythmic Risk in Type 1 and Type 2 Long-QT Syndrome.

scientific article published in November 2017

Are longitudinal, natural history studies the next step in genotype-phenotype translational genomics in hypertrophic cardiomyopathy?

scientific article published on 10 October 2005

Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome

scientific article

Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation

scientific article published on August 2013

Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

scientific article published on 29 April 2015

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

scientific article published on January 2016

Athletes with implantable cardioverter defibrillators: can they return to competitive sports?

scientific article published in January 2016

Automated T-wave analysis can differentiate acquired QT prolongation from congenital long QT syndrome.

scientific article published on 21 April 2017

Automated external defibrillator rescues among children with diagnosed and treated long QT syndrome

scientific article published on 07 January 2015

Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent?

scientific article published on 16 September 2016

Bileaflet Mitral Valve Prolapse and Risk of Ventricular Dysrhythmias and Death

scientific article published on 9 January 2016

Blockade of HERG channels by HIV protease inhibitors.

scientific article published on February 2005

Breath Holding Spells in Children with Long QT Syndrome

scientific article published on 27 April 2015

CALM3 mutation associated with long QT syndrome

scientific article

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

scientific article published on 01 September 2019

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

scientific article published on 01 March 2018

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy

scientific article

Cardiac channel molecular autopsy for sudden unexpected death in epilepsy

scientific article published on 15 April 2010

Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

scientific article

Cardiac transplantation in children and adolescents with long QT syndrome

scientific article

Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest

scientific article published in January 2003

Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome

scientific article published in August 2003

Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A ⬇️

scientific article published on March 26, 2013

Channelopathies as Causes of Sudden Cardiac Death

scientific article published in December 2017

Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy

scientific article published on 22 October 2009

Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome

scientific article published on 24 June 2014

Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing

scientific article published in July 2004

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy

scientific article

Characterization of the cardiac sodium channel SCN5A mutation, N1325S, in single murine ventricular myocytes

scientific article published on 14 November 2006

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

scientific article published in February 2018

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study

scientific article published on 26 August 2016

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

article

Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation.

scientific article published on 27 May 2015

Clinical Presentation of Pediatric Patients at Risk for Sudden Cardiac Arrest

scientific article published on 5 August 2016

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

scientific article published on 30 April 2007

Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome

scientific article published on 14 August 2006

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy

scientific article published in August 2009

Clinical spectrum in a family with tropomyosin-mediated hypertrophic cardiomyopathy and sudden death in childhood

scientific article published on 19 November 2010

Clínica y genética en el síndrome de QT largo

scientific article published on 01 July 2007

Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome

scientific article published on 28 January 2012

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants

scientific article published in July 2005

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

scientific article published on 01 May 2005

Competitive Sport Participation Among Athletes With Heart Disease: A Call for a Paradigm Shift in Decision Making

scientific article published in October 2017

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy

scientific article published in August 2004

Concealed long QT syndrome and intractable partial epilepsy: a case report

scientific article published on 8 October 2012

Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing

scientific article

Congenital long QT syndrome and concomitant early repolarization pattern: a benign association or an ICD-worthy one?

scientific article published on 12 June 2014

Congenital type 1 long QT syndrome unmasked by a highly caffeinated energy drink

scientific article published on 12 October 2011

Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death

scientific article published on 16 December 2011

Contemporary Outcomes in Patients With Long QT Syndrome

scientific article

Coronary microvascular dysfunction is associated with baseline QTc prolongation amongst patients with chest pain and non-obstructive coronary artery disease

scientific article published on 28 October 2015

Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases

scientific article published on December 2005

Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins

scientific article

Deformation patterns in genotyped patients with hypertrophic cardiomyopathy.

scientific article published on 11 November 2013

Denervation of the extrinsic cardiac sympathetic nervous system as a treatment modality for arrhythmia

scientific article published on 10 March 2017

Depletion of zebrafish essential and regulatory myosin light chains reduces cardiac function through distinct mechanisms

scientific article published on 14 March 2008

Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy

scientific article

Diagnostic miscues in congenital long-QT syndrome

scientific article published on 14 May 2007

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

scientific article published on July 2009

Diastolic dysfunction and its histopathological correlation in obstructive hypertrophic cardiomyopathy in children and adolescents

scientific article published on 07 October 2009

Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation

scientific article published on 01 June 2003

Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice

scientific article

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

scientific article published in June 2011

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

scientific article published on 8 February 2014

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

scientific article

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

scientific article published in April 2011

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

scientific article published on 5 April 2018

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

scientific article

Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations

scientific article published in April 2006

Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases

article

Effect of Body Mass Index on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy

scientific article published on 12 October 2017

Effect of Phenylephrine Provocation on Dispersion of Repolarization in Congenital Long QT Syndrome ⬇️

scientific article published on July 1, 2003

Effect of clinical phenotype on yield of long QT syndrome genetic testing

scientific article published on 26 January 2006

Effects on repolarization using dynamic QT interval monitoring in long-QT patients following left cardiac sympathetic denervation

scientific article published on 8 February 2015

Electrocardiographic Predictors of Torsadogenic Risk During Dofetilide or Sotalol Initiation: Utility of a Novel T Wave Analysis Program.

scientific article published on 28 September 2015

Electrocardiographic abnormalities in elite high school athletes: comparison to adolescent hypertrophic cardiomyopathy

scientific article published in January 2016

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

scientific article published on 23 May 2005

Electrocardiographic predictors of coronary microvascular dysfunction in patients with non-obstructive coronary artery disease: Utility of a novel T wave analysis program

scientific article published on November 2015

Electromechanical window negativity in genotyped long-QT syndrome patients: relation to arrhythmia risk

scientific article published on 08 September 2014

Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology

scientific article published on 27 October 2015

Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Sc

scientific article

Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 4: Congenital Heart Disease: A Scientific Statement From the American Heart Association and American College of Cardiology

scientific article

Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 9: Arrhythmias and Conduction Defects: A Scientific Statement From the American Heart Association and American College of Cardiol

scientific article

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

scientific article published on 09 March 2017

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel

scientific article published on 22 April 2015

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

scientific article published on 26 September 2016

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

scientific article published on 09 April 2015

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

scientific article

Epilepsy Misdiagnosed as Long QT Syndrome: It Can Go Both Ways ⬇️

scientific article published on June 10, 2013

Epinephrine QT stress testing in congenital long QT syndrome

scientific article published on 7 September 2006

Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response

scientific article published on 13 March 2006

Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome

scientific article

Epinephrine-induced T-wave notching in congenital long QT syndrome

scientific article published in February 2005

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome

scientific article published on 01 December 2003

Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy

scientific article published on 25 February 2016

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

scientific article

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C , Linked to Autosomal Dominant Long QT Syndrome ⬇️

scientific article published on June 1, 2013

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome

scientific article published on 26 September 2018

Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

scientific article published on 13 May 2009

FGF12 is a candidate Brugada syndrome locus

scientific article published on 04 October 2013

Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy ⬇️

scientific article published on December 19, 2012

Frequency and cause of transient QT prolongation after surgery

scientific article published on 3 September 2015

Frequency and severity of hypoglycemia in children with beta-blocker-treated long QT syndrome

scientific article published on 27 April 2015

Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin

scientific article published on 25 July 2005

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A

scientific article

GWAS or Gee Whiz, PSAS or Pshaw: elucidating the biologic and clinical significance of genetic variation in cardiovascular disease.

scientific article published on 15 September 2009

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

scientific article

Gastrointestinal symptoms in families of patients with an SCN5A-encoded cardiac channelopathy: evidence of an intestinal channelopathy

scientific article

Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy

scientific article published on 08 August 2005

Genetic Insurance Discrimination in Sudden Arrhythmia Death Syndromes: Empirical Evidence From a Cross-Sectional Survey in North America

scientific article published in January 2017

Genetic Susceptibility for COVID-19-Associated Sudden Cardiac Death in African Americans

scientific article published on 04 May 2020

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

scientific article published on March 8, 2011

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic testing for cardiac channelopathies: ten questions regarding clinical considerations for heart rhythm allied professionals

scientific article

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

scientific article

Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise

scientific article published on January 2013

Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?

scientific article published on May 2007

Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies

scientific article published in October 2017

Genomic risk factors in sudden infant death syndrome ⬇️

scientific article published on November 30, 2010

Genotype- and phenotype-guided management of congenital long QT syndrome

scientific article published on October 2013

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

scientific article published on 24 March 2017

Genotype-Phenotype Correlations in Apical Variant Hypertrophic Cardiomyopathy

scientific article published on 14 December 2014

Genotype-phenotype Correlations of Hypertrophic Cardiomyopathy When Diagnosed in Children, Adolescents, and Young Adults

scientific article published on 10 June 2015

Genotype-phenotype aspects of type 2 long QT syndrome

scientific article

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

scientific article

Genotype-specific QT correction for heart rate and the risk of life-threatening cardiac events in adolescents with congenital long-QT syndrome

scientific article published on 10 March 2011

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing

scientific article published on 28 March 2006

Green Tea Catechin Normalizes the Enhanced Ca2+ Sensitivity of Myofilaments Regulated by a Hypertrophic Cardiomyopathy-Associated Mutation in Human Cardiac Troponin I (K206I)

scientific article published on 9 November 2015

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).

scientific article published on August 2011

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).

scientific article published on August 2011

Heart rate dependence of the QT interval duration: differences among congenital long QT syndrome subtypes

scientific article published on 01 May 2004

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation

scientific article published on 2 November 2012

Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations

scientific article published on 3 October 2009

Holter monitoring in the evaluation of congenital long QT syndrome

scientific article published on 20 April 2011

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

scientific article published on 28 April 2015

How should hypertrophic cardiomyopathy be classified?: What's in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy

scientific article published in February 2009

Hypertrophic Cardiomyopathy, Athlete's Heart, or Both: A Case of Hypertrophic Cardiomyopathy Regression

scientific article published in July 2015

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

scientific article

Identification of Concealed and Manifest Long QT Syndrome Using a Novel T Wave Analysis Program.

scientific article published in July 2016

Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome

scientific article published in May 2004

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

scientific article published on 19 October 2005

Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy

scientific article

Impact of clinical decision support preventing the use of QT-prolonging medications for patients at risk for torsade de pointes.

scientific article published on 16 October 2014

Impact of genetics on the clinical management of channelopathies

scientific article published on 15 May 2013

Impact of left ventricular hypertrophy on QT prolongation and associated mortality

scientific article published on 20 June 2014

Impact of septal myectomy on left atrial volume and left ventricular diastolic filling patterns: an echocardiographic study of young patients with obstructive hypertrophic cardiomyopathy

scientific article published on 09 January 2008

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

scientific article published on September 17, 2010

Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome

scientific article published on 8 December 2015

In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene

scientific article

Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification

scientific article published on 12 August 2017

Incidence and Etiology of Sudden Cardiac Arrest and Death in High School Athletes in the United States

scientific article

Incidence, Cause, and Comparative Frequency of Sudden Cardiac Death in National Collegiate Athletic Association Athletes: A Decade in Review.

scientific article published on 14 May 2015

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

scientific article published on November 2007

Institution-Wide QT Alert System Identifies Patients With a High Risk of Mortality ⬇️

scientific article published on April 1, 2013

Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene.

scientific article

International Recommendations for Electrocardiographic Interpretation in Athletes.

scientific article

International criteria for electrocardiographic interpretation in athletes: Consensus statement.

scientific article

International recommendations for electrocardiographic interpretation in athletes

scientific article

Intragenic Suppression of Trafficking-Defective KCNH2 Channels Associated with Long QT Syndrome

scientific article published on 25 April 2005

Irritable bowel syndrome (IBS) patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.

scientific article published on 22 November 2017

Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

scientific article published on 7 January 2014

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

scientific article

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.

scientific article

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

scientific article published on 7 January 2011

Junctophilin-2 is necessary for T-tubule maturation during mouse heart development.

scientific article published on 27 May 2013

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties

scientific article published on 10 November 2006

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

scientific article

LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis

scientific article published on 31 May 2016

LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype

scientific article published on October 2011

Left Axis Deviation in Children Without Previously Known Heart Disease

scientific article published in February 2018

Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery

scientific article published on 19 March 2009

Left cardiac sympathetic denervation in a pediatric patient with hypertrophic cardiomyopathy and recurrent ventricular fibrillation ⬇️

scientific article published on April 1, 2011

Left cardiac sympathetic denervation in long QT syndrome: analysis of therapeutic nonresponders

scientific article published on 31 May 2013

Letter by Amin et al Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?"

scientific article

Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart.

scientific article published on 5 March 2018

Long QT syndrome and pregnancy

scientific article published on 27 February 2007

Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.

scientific article published on 11 August 2009

Long QT syndrome in adults

scientific article published on 4 January 2007

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.

scientific article published on 3 April 2018

Long QT syndrome-associated mutations in intrauterine fetal death

scientific article published on April 2013

Long-QT syndrome after age 40.

scientific article published on 21 April 2008

Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy

scientific article

Loss of Function of hNa v 1.5 by a ZASP1 Mutation Associated With Intraventricular Conduction Disturbances in Left Ventricular Noncompaction ⬇️

scientific article published on August 28, 2012

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

scientific article published on August 2017

Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation

scientific article

Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.

scientific article published on 11 August 2011

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

scientific article published on 28 June 2017

Malignant Bileaflet Mitral Valve Prolapse Syndrome in Patients With Otherwise Idiopathic Out-of-Hospital Cardiac Arrest ⬇️

scientific article published on April 3, 2013

Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome

scientific article published on 26 March 2014

Maternal Mosaicism Confounds the Neonatal Diagnosis of Type 1 Timothy Syndrome ⬇️

scientific article published on May 20, 2013

Mechanical dysfunction in extreme QT prolongation

scientific article published on 4 October 2007

Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating

scientific article published on 6 November 2012

Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients

Minimally invasive epicardial implantable cardioverter-defibrillator placement for infants and children: An effective alternative to the transvenous approach

scientific article published on 16 June 2016

Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young

scientific article published on 24 May 2016

Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy

scientific article published in August 2005

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

scientific article published on 19 February 2004

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome

scientific article

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

scientific article

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

scientific article

Molecular evolution of the junctophilin gene family

scientific article

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

scientific article published on January 2006

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

scientific article

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.

scientific article published on 21 August 2013

Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome

scientific article

Mutation detection in congenital long QT syndrome: cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing.

scientific article

Mutation of an A-kinase-anchoring protein causes long-QT syndrome

scientific article

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

scientific article published on December 2010

Mutation-specific risk in two genetic forms of type 3 long QT syndrome

scientific article published in January 2010

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

scientific article

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome

scientific article published on 13 March 2009

Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome

scientific article published on 28 March 2012

Myocardial fibrosis in patients with symptomatic obstructive hypertrophic cardiomyopathy: correlation with echocardiographic measurements, sarcomeric genotypes, and pro-left ventricular hypertrophy polymorphisms involving the renin-angiotensin-aldos

scientific article

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

scientific article published in June 2008

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

scientific article published in November 2004

Noncardiac genetic predisposition in sudden infant death syndrome

scientific article published on 24 August 2018

Noninvasive assessment of dofetilide plasma concentration using a deep learning (neural network) analysis of the surface electrocardiogram: A proof of concept study

scientific article published in PLoS ONE

Noninvasive blood potassium measurement using signal-processed, single-lead ecg acquired from a handheld smartphone

scientific article

Noninvasive potassium determination using a mathematically processed ECG: proof of concept for a novel "blood-less, blood test"

scientific article published on 18 October 2014

Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol

scientific article

Novel Bloodless Potassium Determination Using a Signal-Processed Single-Lead ECG

scientific article published on 25 January 2016

Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

scientific article

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

scientific article

Novel Timothy syndrome mutation leading to increase in CACNA1C window current

scientific article published on 28 September 2014

Novel gene and mutation discovery in congenital long QT syndrome: let's keep looking where the street lamp standeth

scientific article published on 3 July 2008

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction

scientific article published on February 2017

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.

scientific article

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

scientific article

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death ⬇️

scientific article published on March 27, 2012

Obstructive Sleep Apnea in Patients with Congenital Long QT Syndrome: Implications for Increased Risk of Sudden Cardiac Death

scientific article

Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc

scientific article published on 24 August 2006

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

scientific article published on March 2016

Outcome of patients with hypertrophic cardiomyopathy and a normal electrocardiogram

scientific article published in July 2009

Outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in children and young adults

scientific article published on 4 October 2012

Outcomes of lead extraction without subsequent device reimplantation.

scientific article published on 5 October 2016

Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome

scientific article published on 16 February 2008

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

scientific article

Pathogeneses of sudden cardiac death in national collegiate athletic association athletes.

scientific article published on March 2014

Pathogenesis of unexplained drowning: new insights from a molecular autopsy

scientific article published in May 2005

Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies

scientific article published on 26 February 2013

Pharmacogenetic issues in thorough QT trials

scientific article published on January 2006

Phenotype of Children with QT Prolongation Identified Using an Institution-Wide QT Alert System

scientific article published on 07 April 2015

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

scientific article

Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome

scientific article published on 05 September 2008

Platelet Function Analyzer 100 and Brain Natriuretic Peptide as Biomarkers in Obstructive Hypertrophic Cardiomyopathy

scientific article published on 25 December 2017

Post-Mortem Cardiovascular Implantable Electronic Device Interrogation: Clinical Indications and Potential Benefits

scientific article published in September 2016

Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series

scientific article published on 13 December 2014

Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue

scientific article published in March 2008

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young

scientific article published on 29 December 2006

Potassium-channel mutations and cardiac arrhythmias—diagnosis and therapy ⬇️

scientific article published on January 31, 2012

Potential depot medroxyprogesterone acetate-triggered torsades de pointes in a case of congenital type 2 long QT syndrome

scientific article published on 7 February 2012

Potentially modifiable factors of dofetilide-associated risk of torsades de pointes among hospitalized patients with atrial fibrillation

scientific article published on 23 October 2018

Precision Cardiovascular Medicine: State of Genetic Testing.

scientific article published on April 2017

Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping

scientific article published in March 2004

Prevalence and Outcome of High-Risk QT Prolongation Recorded in the Emergency Department from an Institution-Wide QT Alert System

scientific article published on 26 October 2017

Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity ⬇️

scientific article published on 07 February 2013

Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing ⬇️

scientific article published on October 15, 2010

Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective

scientific article published in June 2002

Prevalence and clinical correlates of QT prolongation in patients with hypertrophic cardiomyopathy

scientific article

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

scientific article (publication date: 10 December 2002)

Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome

scientific article published on 5 October 2013

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

scientific article

Prevalence of early-onset atrial fibrillation in congenital long QT syndrome

scientific article published on 08 February 2008

Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy

scientific article published on 22 September 2008

Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy

article

Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation

scientific article

Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation

scientific article published on 08 February 2010

Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome ⬇️

scientific article published on January 29, 2013

Programmed electrical stimulation for patients with asymptomatic Brugada syndrome? The shock-filled debate continues

scientific article published in March 2015

Properties of WT and mutant hERG K(+) channels expressed in neonatal mouse cardiomyocytes

scientific article published on 2 April 2010

Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia

scientific article published on 25 August 2009

Providers' Response to Clinical Decision Support for QT Prolonging Drugs

scientific article published on 2 September 2017

Pulmonary hypertension is associated with worse survival in hypertrophic cardiomyopathy

scientific article published on 27 February 2016

QT Prolongation, Torsades de Pointes, and Psychotropic Medications: A 5-Year Update

scientific article published on 3 November 2017

QT prolongation and sudden cardiac death risk in hypertrophic cardiomyopathy

scientific article published on 7 March 2018

QTc values among children and adolescents presenting to the emergency department

scientific article published on 28 November 2011

Quality of life after videoscopic left cardiac sympathetic denervation in patients with potentially life-threatening cardiac channelopathies/cardiomyopathies

scientific article published in September 2015

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

scientific article published on 17 September 2010

Ranolazine decreases mechanosensitivity of the voltage-gated sodium ion channel Na(v)1.5: a novel mechanism of drug action

scientific article published on 7 May 2012

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

article

Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes: 2007 update: a scientific statement from the American Heart Association Council on Nutrition, Physical Activity, and M

scientific article published on 12 March 2007

Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

scientific article

Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice.

scientific article

Reduction in malignant ventricular arrhythmia and appropriate shocks following surgical correction of bileaflet mitral valve prolapse

scientific article

Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

scientific article published on 21 February 2008

Response by Baggish et al to Letter Regarding Article, "Competitive Sport Participation Among Athletes With Heart Disease: A Call for a Paradigm Shift in Decision Making".

scientific article published in May 2018

Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation".

scientific article published in January 2016

Response to letters regarding article, "Stroke or transient ischemic attack in patients with transvenous pacemaker or defibrillator and echocardiographically detected patent foramen ovale".

scientific article published on July 2014

Return to play? Athletes with congenital long QT syndrome ⬇️

scientific article published on November 28, 2012

Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome

scientific article published on 21 April 2008

Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome

scientific article published in February 2011

Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals

scientific article published in January 2011

Risk of Recurrent Cardiac Events After Onset of Menopause in Women With Congenital Long-QT Syndrome Types 1 and 2 ⬇️

scientific article published on May 31, 2011

Risk of Syncope in Family Members Who Are Genotype-Negative for a Family-Associated Long-QT Syndrome Mutation ⬇️

scientific article published on August 10, 2011

Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome

scientific article published in September 2006

Risk of death in long-term follow-up of patients with apical hypertrophic cardiomyopathy.

scientific article published on 27 March 2013

Risk of death in the long QT syndrome when a sibling has died

scientific article published on 4 March 2008

Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations ⬇️

scientific article published on November 19, 2012

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

Role of family history of sudden death in risk stratification and prevention of sudden death with implantable defibrillators in hypertrophic cardiomyopathy

scientific article published on November 15, 2010

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum

scientific article published in November 2018

Role of transvenous implantable cardioverter-defibrillators in preventing sudden cardiac death in children, adolescents, and young adults

scientific article published on 01 March 2002

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

scientific article

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

scientific article published on 09 November 2020

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups

scientific article published in August 2018

Sarcomeric genotyping in hypertrophic cardiomyopathy

scientific article published in April 2005

Significance of left atrial volume in patients < 20 years of age with hypertrophic cardiomyopathy

scientific article published on 11 September 2008

Single-Cell RNA-Sequencing and Optical Electrophysiology of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Discordance Between Cardiac Subtype-Associated Gene Expression Patterns and Electrophysiological Phenotypes

article

Sites of Successful Ventricular Fibrillation Ablation in Bileaflet Mitral Valve Prolapse Syndrome

scientific article published in May 2016

Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy

scientific article published on 04 December 2008

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes

scientific article published on 4 October 2004

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing

scientific article

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

scientific article

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

scientific article

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

scientific article published on 25 July 2012

Stimulant therapy in children with attention-deficit/hyperactivity disorder and concomitant long QT syndrome: A safe combination?

scientific article published on 05 May 2015

Stroke or transient ischemic attack in patients with transvenous pacemaker or defibrillator and echocardiographically detected patent foramen ovale

scientific article published on 14 August 2013

Subclinical cardiomyopathy and long QT syndrome: an echocardiographic observation

scientific article published on 24 October 2012

Sudden cardiac arrest during sex in patients with either catecholaminergic polymorphic ventricular tachycardia or long-QT syndrome: a rare but shocking experience

scientific article published on 15 January 2015

Sudden cardiac arrest in a young patient with hypertrophic cardiomyopathy and zero canonical risk factors: the inherent limitations of risk stratification in hypertrophic cardiomyopathy.

scientific article published on 7 May 2013

Sudden infant death syndrome and inherited cardiac conditions.

scientific article published on 7 September 2017

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits

scientific article

Sudden infant death syndrome: do ion channels play a role?

scientific article published on 31 July 2008

Sudden infant death syndrome: how significant are the cardiac channelopathies?

scientific article

Suppression of atrial fibrillation with mexiletine pharmacotherapy in a young woman with type 1 long QT syndrome

scientific article published on 18 October 2007

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

scientific article published on 17 August 2018

Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction

scientific article

Surgical myectomy improves pulmonary hypertension in obstructive hypertrophic cardiomyopathy

scientific article

Surgical septal myectomy decreases the risk for appropriate implantable cardioverter defibrillator discharge in obstructive hypertrophic cardiomyopathy

scientific article

Sympathetic nerve activity and simulated diving in healthy humans

scientific article

Sympathetic nerve activity in the congenital long-QT syndrome

scientific article published on 7 April 2003

Syncope in children and adolescents and the congenital long QT syndrome

scientific article published in September 2003

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

scientific article

TGFbeta inducible early gene-1 (TIEG1) and cardiac hypertrophy: Discovery and characterization of a novel signaling pathway

scientific article published on February 2007

TGFβ‐inducible early gene‐1 (TIEG1) mutations in hypertrophic cardiomyopathy ⬇️

scientific article published on June 1, 2012

Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects

scientific article published in November 2005

Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases

scientific article published in November 2004

Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome

scientific article

Task Force 7: arrhythmias

scientific article published in April 2005

The Natural History of Nonobstructive Hypertrophic Cardiomyopathy

scientific article

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.

scientific article published on 8 October 2016

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: a comprehensive open reading [...]

scientific article

The changing face of sudden cardiac death in the young

scientific article published on 01 December 2005

The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current ⬇️

scientific article published on March 8, 2011

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.

scientific article

The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome ⬇️

scientific article published on May 30, 2011

The effect of mitral valve surgery on ventricular arrhythmia in patients with bileaflet mitral valve prolapse

scientific article published on 24 October 2016

The genetic architecture of long QT syndrome: A critical reappraisal

scientific article published on 30 March 2018

The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy

scientific article published on 18 March 2013

The molecular autopsy: an indispensable step following sudden cardiac death in the young? ⬇️

scientific article published on September 20, 2012

The prevalence and diagnostic/prognostic utility of sinus arrhythmia in the evaluation of congenital long QT syndrome

scientific article published on 29 July 2010

The role of molecular autopsy in unexplained sudden cardiac death

scientific article

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

scientific journal article

Treating obstructive hypertrophic cardiomyopathy-what's best, what's next?

scientific article

Treatment of ventricular fibrillation in a patient with prior diagnosis of long QT syndrome: importance of precise electrophysiologic diagnosis to successfully ablate the trigger

scientific article published on 12 March 2007

Trigger-specific ion-channel mechanisms, risk factors, and response to therapy in type 1 long QT syndrome

scientific article published on 24 August 2011

Trigger-specific risk factors and response to therapy in long QT syndrome type 2.

scientific article published on 17 September 2010

Truncations of titin causing dilated cardiomyopathy.

scientific article

Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

scientific article

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

scientific article

Use of echocardiography in patients with hypertrophic cardiomyopathy: clinical implications of massive hypertrophy

scientific article

Usefulness of brain natriuretic peptide levels in the clinical evaluation of patients with hypertrophic cardiomyopathy

scientific article published on 19 June 2007

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

scientific article published on 29 November 2017

Utility of T-wave amplitude as a non-invasive risk marker of sudden cardiac death in hypertrophic cardiomyopathy

scientific article published on 23 February 2017

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

scientific article published on 23 December 2011

Ventricular ectopy during treadmill exercise stress testing in the evaluation of long QT syndrome

scientific article published on 4 September 2008

Ventricular fibrillation after elective surgery in an adolescent with long QT syndrome

scientific article published on 26 November 2015

Videoscopic Left Cardiac Sympathetic Denervation for Patients With Recurrent Ventricular Fibrillation/Malignant Ventricular Arrhythmia Syndromes Besides Congenital Long-QT Syndrome ⬇️

scientific article published on July 11, 2012

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay

scientific article published on 6 November 2015

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

scientific article published on 25 July 2016

Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy

scientific article

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.

scientific article published on 18 August 2017

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young

scientific article published on 25 April 2016

Women with hypertrophic cardiomyopathy have worse survival.

scientific article

Yield of genetic testing in hypertrophic cardiomyopathy

scientific article published in June 2005

Z-disc genes in hypertrophic cardiomyopathy: stretching the cardiomyopathies?

scientific article published on 01 March 2010

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption

scientific article

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