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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

artículo científico publicado en 2020

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

artículo científico publicado en 2020

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

artículo científico publicado en 2020

2020 APHRS/HRS Expert Consensus Statement on the Investigation of Decedents with Sudden Unexplained Death and Patients with Sudden Cardiac Arrest, and of Their Families

artículo científico publicado en 2020

A 10-year review of sudden death during sporting activities

artículo científico publicado en 2018

A Control Theory-Based Pilot Intervention toIncrease Physical Activity in Patients WithHypertrophic Cardiomyopathy

scientific article published on 08 June 2018

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

artículo científico publicado en 2016

A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy

artículo científico publicado en 2020

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

scientific article published on 28 August 2018

A clinical approach to genetic testing for non-specialists

scientific article published on 28 September 2017

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

article

A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice

scientific journal article

A new model of care for familial hypercholesterolaemia: what is the role of cardiology?

artículo científico publicado en 2012

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2016

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

artículo científico publicado en 2011

A prospective longitudinal study of health-related quality of life and psychological wellbeing after an implantable cardioverter-defibrillator in patients with genetic heart diseases

artículo científico publicado en 2022

A systematic review and meta-analysis of the prevalence of left ventricular non-compaction in adults

artículo científico publicado en 2020

Abnormal cardiac response to exercise in a murine model of familial hypertrophic cardiomyopathy

artículo científico publicado en 2006

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

artículo científico publicado en 2018

Advances in the prevention of sudden cardiac death in the young

scientific article published on 14 January 2009

Adverse effects of high glucose and free fatty acid on cardiomyocytes are mediated by connective tissue growth factor

scientific journal article

An International Multi-Center Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2- Catecholaminergic Polymorphic Ventricular Tachycardia

artículo científico publicado en 2020

An Unexpected FLNC Phenotype: Expanding the Clinical Spectrum or a Second-Hit Disease Mechanism?

artículo científico publicado en 2019

Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.

artículo científico publicado en 2010

Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection.

artículo científico

Application of proteomics in cardiovascular medicine

artículo científico publicado en 2006

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

scientific article published on 08 September 2020

Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study

scientific article published on 01 August 2019

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy

scientific article published on 04 December 2019

Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy

artículo científico publicado en 2020

Atrial Fibrillation in Hypertrophic Cardiomyopathy

artículo científico publicado en 2017

Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.

artículo científico publicado en 2017

Audit of a cardiac screening policy for elite Australian cricketers

artículo científico publicado en 2019

Brugada Syndrome: Clinical Care Amidst Pathophysiological Uncertainty

artículo científico publicado en 2019

Brugada syndrome: a heterogeneous disease with a common ECG phenotype?

artículo científico

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

artículo científico publicado en 2017

CCN2 plays a key role in extracellular matrix gene expression in severe hypertrophic cardiomyopathy and heart failure

artículo científico publicado en 2013

Can post-mortem coronary artery calcium scores aid diagnosis in young sudden death?

artículo científico publicado en 2020

Cardiac Arrhythmiasin Epilepsy: Troublemaker, Accomplice or Innocent Bystander?

scientific article published on 17 September 2020

Cardiac abnormalities and sudden infant death syndrome.

artículo científico publicado en 2014

Cardiac arrest and sudden cardiac death registries: a systematic review of global coverage

artículo científico publicado en 2020

Cardiac genetic investigation of young sudden unexplained death and resuscitated out of hospital cardiac arrest

artículo científico publicado en 2011

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

scientific article published on 10 September 2020

Cardiac screening of athletes: consensus needed for clinicians on indications for follow-up echocardiography testing

artículo científico publicado en 2020

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

artículo científico publicado en 2005

Cardiovascular Effects of Energy Drinks in Familial Long QT Syndrome: A Randomized Cross-Over Study

artículo científico publicado en 2017

Cardiovascular Screening of Elite Athletes by Sporting Organizations in Australia: A Survey of Chief Medical Officers

scientific article published on 17 February 2020

Cardiovascular genomics and sudden cardiac death in the young

artículo científico publicado en 2019

Causes of death in young Australians with type 1 diabetes: a review of coronial postmortem examinations.

artículo científico publicado en 2008

Causes of sudden cardiac death in young Australians.

artículo científico publicado en 2004

Challenges of exercise recommendations and sports participation in genetic heart disease patients

artículo científico publicado en 2015

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

scientific article published on 25 September 2020

Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2

scientific article published on 25 April 2019

Circadian patterns in the occurrence of malignant ventricular tachyarrhythmias triggering defibrillator interventions in patients with hypertrophic cardiomyopathy

scientific article published on 12 February 2009

Clinical Course and Quality of Life in High-Risk Patients With Hypertrophic Cardiomyopathy and Implantable Cardioverter-Defibrillators

artículo científico publicado en 2018

Clinical Course and Significance of Hypertrophic Cardiomyopathy Without Left Ventricular Hypertrophy

artículo científico publicado en 2019

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

article

Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy

artículo científico publicado en 2021

Clinical Utility of a Phenotype Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing

artículo científico publicado en 2020

Clinical and Genetic Complexities of Left Ventricular Noncompaction: Preventing Overdiagnosis in a Disease We Do Not Understand

artículo científico publicado en 2018

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

artículo científico publicado en 2016

Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy

artículo científico publicado en 2010

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

artículo científico publicado en 2013

Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing.

artículo científico

Comparison of Left Atrial Phasic Function in Hypertrophic Cardiomyopathy Versus Systemic Hypertension Using Strain Rate Imaging

artículo científico publicado el 2 de diciembre de 2010

Comparison of conventional autopsy and magnetic resonance imaging in determining the cause of sudden death in the young

artículo científico publicado en 2014

Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events

scientific article published on 01 November 2018

Consequences of pressure overload on sarcomere protein mutation-induced hypertrophic cardiomyopathy.

artículo científico publicado en 2003

Consumption of energy drinks: a new provocation test for primary arrhythmogenic diseases?

artículo científico publicado en 2012

Conveying a probabilistic genetic test result to families with an inherited heart disease.

artículo científico publicado en 2014

Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

scientific article published on 01 May 2019

Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective

scientific article published on 29 August 2020

Daily Step Count as a Simple Marker of Disease Severity in Hypertrophic Cardiomyopathy.

artículo científico publicado en 2018

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2014

Detection of serious complications by MR imaging in asymptomatic young adults with repaired coarctation of the aorta.

artículo científico publicado en 2013

Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces

artículo científico publicado en 2015

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

artículo científico publicado en 2013

Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results.

artículo científico publicado en 2017

Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln

scientific article published on 28 November 2018

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy: Progress and Pitfalls

artículo científico publicado en 2018

Differential protein expression profiling of myocardial tissue in a mouse model of hypertrophic cardiomyopathy

scientific article published on 26 August 2009

Dilated cardiomyopathy

scientific article published in The Lancet

Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression

artículo científico publicado en 2014

Discordant clinical features of identical hypertrophic cardiomyopathy twins

artículo científico publicado en 2021

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

artículo científico publicado en 2020

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors

artículo científico publicado en 2011

ECG-based cardiac screening programs: Legal, ethical, and logistical considerations

scientific article published on 29 March 2019

Editorial commentary: Will the real long QT genes please stand up

artículo científico publicado en 2018

Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy

scientific article published on 03 May 2010

Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases

artículo científico publicado en 2020

Establishment of an Australian National Genetic Heart Disease Registry.

artículo científico publicado en 2008

Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

article

Evaluation After Sudden Death in the Young: A Global Approach

scientific article published on 19 August 2019

Evaluation of Psychological Wellbeing in Patients with Hypertrophic Cardiomyopathy

article published in 2007

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

artículo científico publicado en 2021

Evolution of hypertrophic cardiomyopathy in sarcomere mutation carriers

artículo científico publicado en 2016

Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young.

artículo científico publicado en 2014

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

artículo científico publicado en 2014

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

artículo científico publicado en 2015

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

artículo científico publicado en 2017

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

artículo científico publicado en 2015

Expanding the genetic spectrum of hypertrophic cardiomyopathy: X marks the spot.

artículo científico publicado en 2013

Factors influencing uptake of familial long QT syndrome genetic testing

artículo científico publicado en 2015

Family Matters: Outcomes of Hypertrophic Cardiomyopathy Family Screening

artículo científico publicado en 2018

Feasibility of using real-time CMR imaging to evaluate acute thoracic aortic response to exercise.

artículo científico publicado en 2015

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

artículo científico publicado en 2013

Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation

scientific article published on 06 October 2018

Generation of induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient with the pathogenic variant p.Val698Ala in beta-myosin heavy chain (MYH7) gene

artículo científico publicado en 2017

Genes, calcium and modifying factors in hypertrophic cardiomyopathy

artículo científico publicado en 2006

Genetic Basis of Sudden Unexpected Death in Epilepsy.

artículo científico publicado en 2017

Genetic Cardiovascular Conditions - It's All About Family

scientific article published on 1 April 2020

Genetic Causes in Cardiac Arrest Survivors: Fake News or the Real Deal?

scientific article published on 01 June 2017

Genetic Testing for Cardiomyopathies in Clinical Practice.

artículo científico publicado en 2018

Genetic Testing for Inherited Cardiovascular Disease: Implications of the AHA Scientific Statement for Cardiologists

scientific article published on 29 September 2020

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

artículo científico publicado en 2020

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.

artículo científico publicado en 2014

Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases

artículo científico publicado en 2011

Genetic architecture of left ventricular noncompaction in adults

scientific article published on 15 October 2020

Genetic basis of familial valvular heart disease

artículo científico publicado en 2012

Genetic basis of hypertrophic cardiomyopathy.

artículo científico publicado en 2006

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy

article

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

artículo científico publicado en 2012

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

artículo científico

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

artículo científico publicado en 2018

Genome sequencing for sale on the NHS

scientific article published on 25 February 2019

Genotype phenotype associations across the voltage-gated sodium channel family

artículo científico publicado en 2014

Global epidemiology and demographics of commotio cordis

scientific article published on 18 July 2011

Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure

artículo científico publicado en 2012

Guidelines for genetic testing of inherited cardiac disorders

artículo científico publicado en 2011

Guidelines for the diagnosis and management of hypertrophic cardiomyopathy

artículo científico publicado en 2011

Guidelines for the diagnosis and management of hypertrophic cardiomyopathy

scientific article published on 26 December 2006

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).

artículo científico

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).

artículo científico publicado en 2011

Health status of cardiac genetic disease patients and their at-risk relatives

artículo científico publicado en 2011

Heart Rate Recovery After Exercise Is Associated With Arrhythmic Events in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

artículo científico publicado en 2020

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.

artículo científico publicado en 2018

Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy

scientific article published on 25 December 2012

Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: Insights from the SHaRe Registry

scientific article published on 31 March 2020

Hypertrophic cardiomyopathy: from "heart tumour" to a complex molecular genetic disorder

artículo científico publicado en 2004

Hypertrophic cardiomyopathy: from gene defect to clinical disease

artículo científico publicado en 2003

Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine

artículo científico

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

artículo científico publicado en 2008

Impact of new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy.

artículo científico publicado en 2013

Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study.

artículo científico publicado en 2017

Implantable cardioverter-defibrillator therapy in Australia, 2002-2015

artículo científico publicado en 2018

Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy

artículo científico publicado en 2007

Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest

scientific article published on 1 September 2019

In search of the holy grail in the channelopathy field: Proving pathogenicity of long QT syndrome-associated variants?

artículo científico publicado en 2017

Inconsistent discharge diagnoses for young cardiac arrest episodes: insights from a statewide registry

artículo científico publicado en 2022

Induced pluripotent stem cell technology and inherited arrhythmia syndromes.

artículo científico publicado en 2017

Induced pluripotent stem cells in the inherited cardiomyopathies: From disease mechanisms to novel therapies.

artículo científico publicado en 2016

Interdisciplinary psychosocial care for families with inherited cardiovascular diseases

artículo científico publicado en 2016

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

scientific article published on 01 January 2019

Key role of the molecular autopsy in sudden unexpected death

artículo científico

LAMP2 shines a light on cardiomyopathy in an athlete

artículo científico publicado en 2017

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

scientific article published on 11 May 2018

Late positive flecainide challenge test for Brugada syndrome

artículo científico publicado en 2014

Left Ventricular Non-Compaction: Review of the Current Diagnostic Challenges and Consequences in Athletes

artículo científico publicado en 2020

Left atrial phasic volumes are modulated by the type rather than the extent of left ventricular hypertrophy

artículo científico publicado en 2010

Letter by Semsarian and Ingles regarding article, "A randomized trial of social media from Circulation".

artículo científico publicado en 2015

Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)

artículo científico publicado en 2019

Long term clinical outcomes associated with CMR quantified isolated left ventricular non-compaction in adults

scientific article published on 10 December 2020

Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study

scientific article published on 28 February 2018

Long-term follow-up of implantable cardioverter defibrillator therapy for hypertrophic cardiomyopathy.

artículo científico publicado en 2004

Long-term follow-up of patients with obstructive hypertrophic cardiomyopathy treated with dual-chamber pacing.

artículo científico publicado en 2005

Making the case for cascade screening among families with inherited heart disease

artículo científico publicado en 2019

Management of the ascending aorta in patients with bicuspid aortic valve disease

artículo científico publicado en 2008

Mind the gap: knowledge deficits in evaluating young sudden cardiac death

artículo científico publicado en 2020

Misclassification of cricket in the American College of Cardiology (ACC) Task Force classification of sports

artículo científico publicado en 2018

Mitral valve prolapse and sudden cardiac death: a systematic review and meta-analysis

scientific article published on 21 September 2018

Molecular and functional alterations in a mouse cardiac model of Friedreich ataxia: activation of the integrated stress response, eIF2α phosphorylation, and the induction of downstream targets.

artículo científico publicado en 2013

Molecular autopsy in victims of inherited arrhythmias

artículo científico publicado en 2016

Molecular diagnostics of cardiomyopathies: the future is here.

artículo científico publicado en 2011

Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy

artículo científico publicado en 2006

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

artículo científico publicado en 2017

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

artículo científico publicado en 2009

Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy

artículo científico publicado en 2006

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

artículo científico publicado en 2010

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

artículo científico publicado en 2015

Natural history of genotype positive-phenotype negative patients with hypertrophic cardiomyopathy

artículo científico publicado en 2011

Needs analysis of parents following sudden cardiac death in the young

scientific article published on 01 July 2020

New perspectives on the prevalence of hypertrophic cardiomyopathy

artículo científico publicado en 2015

No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort.

artículo científico publicado en 2013

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

artículo científico publicado en 2017

Obstructive sleep apnea a respiratory syndrome with protean cardiovascular manifestations

artículo científico publicado en 2009

Opposing actions of extracellular signal-regulated kinase (ERK) and signal transducer and activator of transcription 3 (STAT3) in regulating microtubule stabilization during cardiac hypertrophy.

artículo científico publicado en 2010

Overdiagnosis of left ventricular non-compaction in adults: the data tells the story

artículo científico publicado en 2019

Overview of model systems for the analysis of human disease

scientific article published on 01 February 2006

Paediatric cardiomyopathy: getting to the heart of the matter

artículo científico publicado en 2013

Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude

artículo científico publicado en 2019

Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement

artículo científico publicado en 2020

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

artículo científico publicado en 2019

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.

artículo científico publicado en 2017

Physical activity in hypertrophic cardiomyopathy: prevalence of inactivity and perceived barriers

artículo científico publicado en 2016

Poor psychological wellbeing particularly in mothers following sudden cardiac death in the young.

artículo científico publicado en 2013

Post-Mortem Imaging Adjudicated Sudden Death: Causes and Controversies

artículo científico publicado en 2018

Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus

artículo científico publicado en 2010

Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

scientific article published on 28 September 2010

Postmortem analysis of cardiovascular deaths in schizophrenia: a 10-year review

artículo científico

Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians

artículo científico publicado en 2007

Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.

artículo científico

Posttraumatic Stress and Prolonged Grief After the Sudden Cardiac Death of a Young Relative

artículo científico publicado en 2016

Preclinical alterations in cardiac energetics amongst sarcomere mutation carriers in hypertrophic cardiomyopathy

Presence Of Left Ventricular Non Compaction In Hypertrophic Cardiomyopathy Is Associated With Arrhythmia.

artículo científico publicado en 2016

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

artículo científico publicado en 2020

Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI

scientific article published on 30 December 2019

Preventing sudden cardiac death in athletes

artículo científico publicado en 2016

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

article

Prevention of sudden death for patients with cardiomyopathies another step forward

artículo científico publicado en 2012

Prognostic impact of atrial fibrillation in hypertrophic cardiomyopathy: a systematic review

artículo científico publicado en 2020

Progression of left ventricular hypertrophy and the angiotensin-converting enzyme gene polymorphism in hypertrophic cardiomyopathy

artículo científico publicado en 2004

Prolongation of the QTc interval predicts appropriate implantable cardioverter-defibrillator therapies in hypertrophic cardiomyopathy.

artículo científico publicado en 2013

Proteome map of the normal murine ventricular myocardium

artículo científico publicado en 2007

Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young

scientific article published on 16 October 2018

Psychological wellbeing and posttraumatic stress associated with implantable cardioverter defibrillator therapy in young adults with genetic heart disease

artículo científico publicado en 2013

Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy

artículo científico publicado en 2018

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

artículo científico publicado en 2017

Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy.

artículo científico publicado en 2008

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

artículo científico publicado en 2018

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

artículo científico publicado en 2012

Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative

artículo científico publicado en 2008

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

scientific article published on 01 March 2019

Relation of 12-lead electrocardiogram patterns to implanted defibrillator-terminated ventricular tachyarrhythmias in hypertrophic cardiomyopathy

artículo científico publicado en 2009

Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome.

artículo científico publicado en 2018

Reply: Obstructive sleep apnea and hypertrophic cardiomyopathy: obiter dictum or more?

artículo científico publicado en 2014

Reply: What Is the True Prevalence of Hypertrophic Cardiomyopathy?

scientific article published on 01 October 2015

Respiratory distress and perinatal lethality in Nedd4-2-deficient mice

artículo científico publicado en 2011

Response by Ingles and Semsarian to Letter Regarding Article, "Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events"

scientific article published on 01 March 2019

Response to Brodehl et al

scientific article published on 28 September 2018

Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations

artículo científico publicado en 2019

Risk of sudden death and outcome in patients with hypertrophic cardiomyopathy with benign presentation and without risk factors

artículo científico publicado en 2014

Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.

artículo científico publicado en 2017

Role of animal models in HCM research

scientific article published on 07 August 2009

Routinely collected health data to study inherited heart disease: a systematic review (2000-2016).

artículo científico publicado en 2017

Screening children at risk for hypertrophic cardiomyopathy: balancing benefits and harms

artículo científico publicado en 2019

Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy

artículo científico publicado en 2008

Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients

article

Slowed atrial and atrioventricular conduction and depressed HRV in a murine model of hypertrophic cardiomyopathy

artículo científico publicado en 2015

Social determinants of health in the setting of hypertrophic cardiomyopathy.

artículo científico publicado en 2015

Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia

artículo científico publicado en 2005

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy

scientific article published on 25 August 2020

Sudden Cardiac Death and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy

scientific article published on 24 September 2018

Sudden Cardiac Death in Athletes

artículo científico publicado en 2018

Sudden Cardiac Death in Athletes: Still Much to Learn

artículo científico publicado en 2016

Sudden Cardiac Death in Children and Young Adults

artículo científico publicado en 2016

Sudden cardiac death in athletes

artículo científico publicado en 2015

Sudden cardiac death in athletes

artículo científico publicado en 2015

Sudden cardiac death in the young

artículo científico publicado en 2002

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives.

artículo científico

Sudden cardiac death rates in an Australian population: a data linkage study.

artículo científico publicado en 2015

Sudden cardiac death: an update

scientific article published on 01 July 2019

Sudden death in athletes: preventable or inevitable?

artículo científico publicado en 2014

Sudden death in type 1 diabetes: the mystery of the 'dead in bed' syndrome

scientific article published on 3 August 2008

Sudden death prevented in hypertrophic cardiomyopathy

artículo científico publicado en 2003

Sudden deaths during the largest community running event in Australia: A 25-year review.

artículo científico publicado en 2015

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

artículo científico publicado en 2016

Surgery for hypertrophic cardiomyopathy.

artículo científico publicado en 2015

Temporal Trends in Sudden Cardiac Death From 1997 to 2010: A Data Linkage Study

artículo científico publicado en 2017

The Australian Genetic Heart Disease Registry

artículo científico publicado en 2013

The Cardiac Society of Australia and New Zealand Position Statement on the Diagnosis and Management of Arrhythmogenic Right Ventricular Cardiomyopathy (2019 Update)

artículo científico publicado en 2019

The Christmas gift of genetic uncertainty

artículo científico publicado en 2017

The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest

scientific article published on 13 November 2020

The L-type Ca(2+) channel facilitates abnormal metabolic activity in the cTnI-G203S mouse model of hypertrophic cardiomyopathy.

artículo científico publicado en 2016

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

artículo científico publicado en 2002

The Role of the L-Type Ca2+ Channel in Altered Metabolic Activity in a Murine Model of Hypertrophic Cardiomyopathy

artículo científico publicado en 2016

The emerging role of the cardiac genetic counselor

artículo científico publicado en 2011

The genetic and molecular basis of bicuspid aortic valve associated thoracic aortopathy: a link to phenotype heterogeneity

artículo científico publicado en 2013

The potential for overdiagnosis and underdiagnosis because of blood pressure variability: a comparison of the 2017 ACC/AHA, 2018 ESC/ESH and 2019 NICE hypertension guidelines

artículo científico publicado en 2020

The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy

artículo científico publicado en 2009

The value of cardiac genetic testing.

artículo científico publicado en 2014

Time to Rethink the Genetic Architecture of Long QT Syndrome

artículo científico publicado en 2020

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

scientific journal article

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in <i>MYBPC3</i>

artículo científico publicado en 2021

Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population

artículo científico publicado en 2020

Tweeting our way to cardiovascular health

artículo científico publicado en 2013

Twelve-lead ambulatory electrocardiographic monitoring in Brugada syndrome: Potential diagnostic and prognostic implications

artículo científico publicado en 2017

Update on the Diagnosis and Management of Hypertrophic Cardiomyopathy

artículo científico publicado en 2017

Use of mouse models for the analysis of human disease

artículo científico publicado en 2002

Use of mouse models for the analysis of human disease

scientific article published on 01 January 2009

Utility of genetic testing in athletes

artículo científico publicado en 2020

Variable Penetrance in Hypertrophic Cardiomyopathy: In Search of the Holy Grail

artículo científico publicado en 2020

Ventricular Tachyarrhythmias in Patients With Hypertrophic Cardiomyopathy and Defibrillators: Triggers, Treatment, and Implications

artículo científico publicado en 2017

Ventricular tachycardia/fibrillation early after defibrillator implantation in patients with hypertrophic cardiomyopathy is explained by a high-risk subgroup of patients

artículo científico publicado en 2012

When do athletes benefit from cardiac genetic testing?

scientific article published on 27 March 2020

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

scientific article published on 01 July 2018

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

artículo científico publicado en 2022

Why We Might Not Need to Stress About Ruling Out Inducible Myocardial Ischemia

scientific article published on 07 January 2020