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List of works by Jeffrey A Towbin

1164-131 Clinical significance of lamin A/C mutations in dilated cardiomyopathy

article published in 2004

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the Ameri

scientific article

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article published on 08 November 2011

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

scientific article

A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents

scientific article

A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase

scientific article published in October 2004

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

scientific article published on 09 March 2016

A noninvasive means of detecting preclinical cardiomyopathy in Duchenne muscular dystrophy?

scientific article published on 01 July 2003

A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects

scientific article published on September 2009

A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

scientific article published on 01 May 2009

A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness

scientific article published on 18 May 2009

A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy.

scientific article

A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy

scientific article published on 29 May 2008

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene

scientific article

Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt/β-catenin signaling

scientific article published on 6 November 2015

Administration of a large nesiritide bolus dose in a pediatric patient: case report and review of nesiritide use in pediatrics

scientific article

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

scientific article

Arginine vasopressin levels are elevated and correlate with functional status in infants and children with congestive heart failure

scientific article

Arrhythmias and dilated cardiomyopathy common pathogenetic pathways?

scientific article published on 01 May 2011

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias.

scientific article

Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: a new animal model of human disease

scientific article (publication date: 9 March 2004)

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes

scientific article published on 01 January 2003

Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study

scientific article

Arrhythmogenic right ventricular cardiomyopathy: a 'final common pathway' that defines clinical phenotype

scientific article published on 15 February 2007

Arrhythmogenic right ventricular cardiomyopathy: a paradigm of overlapping disorders

scientific article published on 01 October 2008

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol

scientific article published on 01 June 2003

Assessing the global and regional impact of primary cardiomyopathies: The Global Burden of Diseases, Injuries and Risk Factors (GBD 2010) Study

Assessment and management of the failing heart in children

scientific article published on December 2008

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

scientific article

Assessment of the CTNNA3 gene encoding human alpha T-catenin regarding its involvement in dilated cardiomyopathy

scientific article

Assessment of the Cylex ImmuKnow cell function assay in pediatric heart transplant patients

scientific article published on 12 December 2008

Association between diffuse myocardial fibrosis and diastolic dysfunction in sickle cell anemia

scientific article published on 15 May 2017

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects

scientific article published on 02 February 2011

Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiom

scientific article published on 20 April 2015

Association of left ventricular dilation at listing for heart transplant with postlisting and early posttransplant mortality in children with dilated cardiomyopathy

scientific article published on 28 September 2009

B-type natriuretic peptide is a sensitive screening test for acute rejection in pediatric heart transplant patients

scientific article published on 24 April 2008

B-type natriuretic peptide predicts adverse cardiovascular events in pediatric outpatients with chronic left ventricular systolic dysfunction

scientific article published on 28 August 2006

Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death

scientific article published on 01 April 2006

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

scientific journal article

Biomarkers of cardiovascular stress and fibrosis in preclinical hypertrophic cardiomyopathy

scientific article published in November 2017

Brugada syndrome: 1992-2002: a historical perspective

scientific article published in May 2003

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

scientific article

Cardiac Biomarkers in Pediatric Cardiomyopathy: Study Design and Recruitment Results from the Pediatric Cardiomyopathy Registry

scientific article published on 07 March 2019

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

scientific article

Cardiac metabolic pathways affected in the mouse model of barth syndrome

scientific article published on June 2015

Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis

scientific article published on 31 January 2018

Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance

scientific article

Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism

scientific article

Cardiomyopathy Phenotypes and Outcomes for Children With Left Ventricular Myocardial Noncompaction: Results From the Pediatric Cardiomyopathy Registry

scientific article

Cardiomyopathy and heart transplantation in children

scientific article published on 01 May 2002

Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona

scientific article published in July 2004

Cardiotropic viruses in the myocardium of children with end-stage heart disease

scientific article published on 01 September 2004

Cardiovascular Family History Increases Risk for Late-Onset Adverse Cardiovascular Outcomes in Childhood Cancer Survivors: A St. Jude Lifetime Cohort Report

scientific article published on 08 October 2020

Cardiovascular Health Promotion in Children: Challenges and Opportunities for 2020 and Beyond: A Scientific Statement From the American Heart Association

scientific article published on 11 August 2016

Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry

scientific article published on 19 March 2008

Characteristics and outcomes of heart failure-related intensive care unit admissions in children with cardiomyopathy

scientific article published in October 2013

Characterization of left ventricular diastolic function by tissue Doppler imaging and clinical status in children with hypertrophic cardiomyopathy

scientific article published on 15 March 2004

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

scientific article published on 26 August 2016

Clinical Presentation and Outcomes by Sex in Arrhythmogenic Right Ventricular Cardiomyopathy: Findings from the North American ARVC Registry

scientific article published on 3 February 2016

Clinical approaches to tachyarrhythmias, volume 10: The brugada syndrome

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 characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy

scientific article (publication date: 25 November 2003)

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

scientific article published on 14 August 2006

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2

scientific article

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

scientific article published in August 2009

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

scientific article published in October 2004

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

scientific article published on 28 January 2012

Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry

scientific article

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy

scientific article

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome

scientific article published in April 2002

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy

scientific article published in September 2002

Concentrations of brain natriuretic peptide in the plasma predicts outcomes of treatment of children with decompensated heart failure admitted to the Intensive Care unit

scientific article published on 18 June 2007

Conditional ablation of nonmuscle myosin II-B delineates heart defects in adult mice

scientific article

Conduction Abnormalities in Pediatric Patients With Restrictive Cardiomyopathy ⬇️

scientific article published on January 19, 2012

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

scientific article

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association.

scientific article

D-transposition of the great arteries: the current era of the arterial switch operation

scientific article

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

scientific article published on 06 September 2005

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

scientific article published in January 2007

Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus

scientific article published on 20 May 2002

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome

scientific article published on May 2002

Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy

scientific article

Desmosomal gene variants in patients with “possible ARVC” ⬇️

scientific article published on March 17, 2011

Detection of viral deoxyribonucleic acid in amniotic fluid: association with fetal malformation and pregnancy abnormalities

scientific article published in May 2005

Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults

scientific article published in August 2003

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria

scientific article

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.

scientific article published on 19 February 2010

Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome

scientific article published in September 2004

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

scientific article published on July 2009

Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group

scientific article published on February 2017

Differential effects of beta-blockade on dispersion of repolarization in the absence and presence of sympathetic stimulation between the LQT1 and LQT2 forms of congenital long QT syndrome

scientific article published in June 2002

Dilated cardiomyopathy

scientific article published in February 2010

Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond

scientific article published on 9 June 2006

Dilation of the aortic root in mitochondrial disease patients

article

Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010

scientific article (publication date: 15 December 2012)

Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach

scientific article

Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy

scientific article published on December 2014

Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging

scientific article published on 15 January 2015

Early Predictors of Survival to and After Heart Transplantation in Children With Dilated Cardiomyopathy ⬇️

scientific article published on July 16, 2012

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

scientific article

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

scientific article

Effect of body mass index on outcome in pediatric heart transplant patients

scientific article published on 01 July 2007

Effect of solute temperature in the measurement of cardiac output in children using the thermodilution technique

scientific article published on 4 November 2016

Effectiveness of Mechanical Circulatory Support in Children With Acute Fulminant and Persistent Myocarditis ⬇️

scientific article published on April 22, 2011

Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry

scientific article published on 29 January 2007

Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome.

scientific article published in February 2003

Estimates of global, regional, and national incidence, prevalence, and mortality of HIV, 1980-2015: the Global Burden of Disease Study 2015

scientific article

Factors associated with establishing a causal diagnosis for children with cardiomyopathy

scientific article published in October 2006

FasL expression in cardiomyocytes activates the ERK1/2 pathway, leading to dilated cardiomyopathy and advanced heart failure

scientific article

Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy

scientific article published on 9 May 2016

Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity.

scientific article published on May 2013

Frequency of cardiac death in children with idiopathic dilated cardiomyopathy.

scientific article published on 14 October 2009

Further Associations of Congenital Heart Disease and Genetic Syndromes: Report of a Case of Tetralogy of Fallot and Fabry’s Disease

Future research directions in pediatric cardiomyopathy

GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics

scientific article

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

scientific article published on 22 June 2009

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

scientific article published on 19 January 2006

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome

scientific article

Genetic architecture of laterality defects revealed by whole exome sequencing

scientific article published on 08 January 2019

Genetic aspects of dilated cardiomyopathy

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

scientific article

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

scientific article

Genetics and cardiac arrhythmias

scientific article

Genetics and cardiovascular disease: a policy statement from the American Heart Association.

scientific article

Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians

scientific article published on 14 March 2013

Genetics of dilated cardiomyopathy: more genes that kill

scientific article published on 01 November 2004

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

Global and National Burden of Diseases and Injuries Among Children and Adolescents Between 1990 and 2013: Findings From the Global Burden of Disease 2013 Study

scientific article

Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010

journal article published in 2012

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013

scientific article

Global, regional, and national incidence and mortality for HIV, tuberculosis, and malaria during 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.

scientific article published on 22 July 2014

Global, regional, and national levels and causes of maternal mortality during 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.

scientific article

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

Health-Related Quality of Life and Functional Status Are Associated with Cardiac Status and Clinical Outcome in Children with Cardiomyopathy

scientific article published on 22 December 2015

Heart Transplants in Pediatric Patients: Viral Infection As a Loss Predictor ⬇️

scientific article published on November 1, 2010

Hot topics in tetralogy of Fallot.

scientific article published on 27 September 2013

How accurately, reproducibly, and efficiently can we measure left ventricular indices using M-mode, 2-dimensional, and 3-dimensional echocardiography in children?

scientific article published on 21 February 2008

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

scientific article published on 01 July 2009

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

scientific article

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

scientific article

Idiopathic and Primary Cardiomyopathies in Children

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

scientific journal article

Improved outcomes of pediatric dilated cardiomyopathy with utilization of heart transplantation

scientific article published on 01 July 2004

Incidence of and risk factors for sudden cardiac death in children with dilated cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry

scientific article published on February 2012

Incidence, causes, and outcomes of dilated cardiomyopathy in children

scientific article published in October 2006

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel

scientific article published in February 2002

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

scientific article published in April 2005

Inherited Cardiomyopathies

article

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

Initial Observations of the Effects of Calcium Chloride Infusions in Pediatric Patients with Low Cardiac Output

scientific article published on 19 December 2015

International Society for Heart and Lung Transplantation: Practice guidelines for management of heart failure in children.

scientific article published in December 2004

Intrafamilial variability of noncompaction of the ventricular myocardium

scientific article published on 01 May 2006

Ion channel dysfunction associated with arrhythmia, ventricular noncompaction, and mitral valve prolapse: a new overlapping phenotype

scientific article published on August 2014

Is adenovirus a fetal pathogen? ⬇️

scientific article published on September 1, 2003

Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

scientific article

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders

scientific article

LAMP2 microdeletions in patients with Danon disease

scientific article

Late pacemaker requirement after pediatric orthotopic heart transplantation may predict the presence of transplant coronary artery disease

scientific article published in January 2004

Left Atrial structure and function in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy

scientific article published on 28 December 2017

Left Ventricular Noncompaction Cardiomyopathy and Aortopathy in a Patient With Recessive Dystrophic Epidermolysis Bullosa ⬇️

scientific article published on 01 September 2012

Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation ⬇️

scientific article published on March 17, 2012

Left Ventricular Noncompaction: A New Form of Heart Failure ⬇️

scientific article published on October 1, 2010

Left ventricular non-compaction cardiomyopathy

scientific article published on 9 April 2015

Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation

scientific article

Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors

scientific article

Left ventricular noncompaction in a family with lamin A/C gene mutation

scientific article

Leukocyte suppression is associated with improved clinical outcomes in children's status after orthotopic heart transplantation

scientific article

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

scientific article

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome

scientific article published in November 2003

Long QT syndrome and pregnancy

scientific article published on 27 February 2007

Long QT syndrome in adults

scientific article published on 4 January 2007

Long-QT syndrome after age 40.

scientific article published on 21 April 2008

Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3.

scientific article

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy

scientific article published on 09 July 2012

Mechanical circulatory support as a bridge to combined dual organ transplantation in children

scientific article published on 13 November 2006

Mediators in HIV-associated cardiovascular disease: a focus on cytokines and genes

scientific article

Medical Therapy Leads to Favorable Remodeling in Left Ventricular Non-compaction Cardiomyopathy: Dilated Phenotype

scientific article published on 02 January 2016

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70 ⬇️

scientific article published on July 24, 2010

Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

scientific article

Modification of a volume-overload heart failure model to track myocardial remodeling and device-related reverse remodeling

scientific article published on 6 July 2011

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

scientific article published in July 2003

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

scientific article

Molecular diagnosis of myocardial disease

scientific article

Molecular genetic basis of sudden cardiac death

scientific article published on 01 October 2004

Molecular genetics of heterotaxy syndromes

scientific article published on May 2004

Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices

scientific article published in March 2004

Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy

scientific article published in March 2002

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

scientific article (publication date: June 2005)

Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center ⬇️

scientific article published on April 30, 2013

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

scientific article

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

scientific article published on 01 December 2002

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 in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

scientific article

Mutation screening for the genes causing cardiac arrhythmias

scientific article published on 01 January 2006

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan

scientific article published in July 2004

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

scientific article (publication date: 3 December 2003)

Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?

scientific article published on 21 July 2006

Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy

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

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

scientific article

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy

scientific article published in September 2002

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis ⬇️

scientific article published on September 1, 2003

Myocardial Fas ligand expression increases susceptibility to AZT-induced cardiomyopathy

scientific article published on 18 October 2007

Myocardial deformation abnormalities in pediatric hypertrophic cardiomyopathy: are all etiologies identical?

scientific article published on 27 April 2008

Myocardial fibrosis burden predicts left ventricular ejection fraction and is associated with age and steroid treatment duration in duchenne muscular dystrophy

scientific article published on 26 March 2015

Myocardial infarction, viral infection, and the cytoskeleton final common pathways of a common disease?

scientific article published on 19 November 2007

Myocardial pro-inflammatory cytokine expression and cellular rejection in pediatric heart transplant recipients

scientific article

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

scientific article published on 30 June 2008

Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial Fibroelastosis ⬇️

scientific article published on October 26, 2010

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

scientific article

Nesiritide therapy in a term neonate with renal disease

scientific article published in February 2006

No Obesity Paradox in Pediatric Patients With Dilated Cardiomyopathy

scientific article published in February 2018

Novel mutations in domain I of SCN5A cause Brugada syndrome

scientific article published in April 2002

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry

scientific article published on 9 August 2012

Outcomes of congenital heart surgery patients after extracorporeal life support at Texas Children's Hospital

scientific article published in October 2004

Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry.

scientific article published on 27 July 2012

Outpatient continuous parenteral inotropic therapy as bridge to transplantation in children with advanced heart failure

scientific article

Over two decades of pediatric heart transplantation: How has survival changed?

article

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome

scientific article published in October 2009

Parvovirus B19 Myocarditis Causes Significant Morbidity and Mortality in Children ⬇️

scientific article published on 08 August 2012

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations

scientific article

Pediatric Cardiomyopathies

scientific article published in September 2017

Pediatric and adult dilated cardiomyopathy represent distinct pathological entities

scientific article

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation ⬇️

scientific article published on March 10, 2012

Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:.

scientific article

Phospholipid abnormalities in children with Barth syndrome

scientific article

Postmortem cardiomegaly and echocardiographic measurements of left ventricular size and function in children infected with the human immunodeficiency virus. The Prospective P2C2 HIV Multicenter Study

scientific article published in May 2003

Preface: Heart failure in children

scientific article published on 01 October 2010

Prevalence, Morbidity, and Mortality of Heart Failure–Related Hospitalizations in Children in the United States: A Population-Based Study ⬇️

scientific article published on April 10, 2012

Prevalence, predictors, and outcomes of cardiorenal syndrome in children with dilated cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry

scientific article

Preventing pediatric cardiomyopathy: a 2015 outlook

scientific article

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

scientific article published on January 29, 2013

Progress in Pediatric Cardiology

Prolonged QT in a 13-Year-Old Patient with Down Syndrome and Complete Atrioventricular Canal Defect ⬇️

scientific article published on 01 October 2011

Proposed diagnostic criteria for the Brugada syndrome: consensus report

scientific article published in November 2002

Provocation testing in inherited arrhythmia disorders: can we be more specific?

scientific article published in February 2005

Radio-frequency catheter ablation of accessory pathway mediated tachycardia in a child after orthotopic heart transplantation

scientific article published on 01 September 2005

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

scientific article

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

scientific article

Recovery of echocardiographic function in children with idiopathic dilated cardiomyopathy: results from the pediatric cardiomyopathy registry

scientific article

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

scientific article published on 5 June 2008

Regional myocardial deformation in children with hypertrophic cardiomyopathy: morphological and clinical correlations

scientific article published on 30 October 2007

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

article

Reply: Pregnancy in arrhythmogenic right ventricular dysplasia/cardiomyopathy

scientific article published on 28 August 2013

Response by Towbin and Jefferies to Letter Regarding Article, "Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism".

scientific article published in December 2017

Response to letter regarding article, "mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center".

scientific article published in January 2014

Risk factors and mode of death in isolated hypertrophic cardiomyopathy in children

scientific article published on July 2009

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 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

Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry

scientific article

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia

scientific article published on 01 April 2008

SNP genotyping to screen for a common deletion in CHARGE syndrome

scientific article

Safety and efficacy of nesiritide in pediatric heart failure.

scientific article

Scarring in the heart--a reversible phenomenon?

scientific article published on 01 October 2007

Shared genetic causes of cardiac hypertrophy in children and adults

scientific article

Short-term mechanical unloading and reverse remodeling of failing hearts in children

scientific article published on 26 September 2009

Sickle cell anemia mice develop a unique cardiomyopathy with restrictive physiology

scientific article published on 08 August 2016

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

scientific article

Strategies to Prevent Cast Formation in Patients with Plastic Bronchitis Undergoing Heart Transplantation

scientific article published on 19 January 2017

Survival Without Cardiac Transplantation Among Children With Dilated Cardiomyopathy

scientific article published in November 2017

Symptom complex is associated with transplant coronary artery disease and sudden death/resuscitated sudden death in pediatric heart transplant recipients

scientific article published on 20 June 2005

Task Force 2: congenital heart disease

scientific article

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

scientific article

The A, B, Cs of sudden infant death syndrome: an electrical disorder?

scientific article published on 20 February 2010

The Brugada Syndrome

The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.

scientific article published in April 2017

The Impact of Concomitant Left Ventricular Non-compaction with Congenital Heart Disease on Perioperative Outcomes

scientific article published on 29 June 2016

The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States ⬇️

scientific article published on April 24, 2003

The International Society of Heart and Lung Transplantation Guidelines for the care of heart transplant recipients

scientific article

The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

scientific article published on 01 March 2002

The detection of viral genomes by polymerase chain reaction in the myocardium of pediatric patients with advanced HIV disease

article

The efficacy of mitral valve surgery in children with dilated cardiomyopathy and severe mitral regurgitation

scientific article

The impact of heart failure severity at time of listing for cardiac transplantation on survival in pediatric cardiomyopathy

scientific article

The mystery of arrhythmogenic right ventricular dysplasia/cardiomyopathy: from observation to mechanistic explanation

scientific article published on 01 October 2006

The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years

scientific article

The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology

scientific article published on 24 October 2007

The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology Endorsed by the Heart Failure Socie

scientific article published on 24 October 2007

The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Endorsed by the Heart Failure Soci

scientific article published on 01 November 2007

Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species

scientific journal article

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

article

Transcription factor neuromancer/TBX20 is required for cardiac function in Drosophila with implications for human heart disease

scholarly article

Treating children with idiopathic dilated cardiomyopathy (from the Pediatric Cardiomyopathy Registry).

scientific article published on 03 June 2009

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

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

article

Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations

scientific article

Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations

scientific article

Ventricular remodeling and survival are more favorable for myocarditis than for idiopathic dilated cardiomyopathy in childhood: an outcomes study from the Pediatric Cardiomyopathy Registry.

scientific article published on 10 September 2010

Viral endomyocardial infection in the 1st year post transplant is associated with persistent inflammation in children who have undergone cardiac transplant ⬇️

scientific article published on May 17, 2013

Viral endomyocardial infection is an independent predictor and potentially treatable risk factor for graft loss and coronary vasculopathy in pediatric cardiac transplant recipients

scientific article

Viral epidemiologic shift in inflammatory heart disease: the increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients

scientific article

Viral genomic detection and outcome in myocarditis

scientific article published on October 2005

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

scientific article published on 31 October 2017

Worsening renal function in children hospitalized with decompensated heart failure: evidence for a pediatric cardiorenal syndrome?

scientific article published in May 2008

Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010

scholarly article

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

scientific article

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