Genetics of dilated cardiomyopathy: practical implications for heart failure management

2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy

(2019) Jeffrey A. Towbin et al.   HEART RHYTHM

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

(2018) Maarten M. G. van den Hoogenhof et al.   CIRCULATION

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2018) Ray E. Hershberger et al.   GENETICS IN MEDICINE

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

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2018) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Genetic Counselors’ Experiences and Interest in Telegenetics and Remote Counseling

(2018) Heather A. Zierhut et al.   Journal of Genetic Counseling

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

(2018) Richard D. Bagnall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genome-wide DNA methylation encodes cardiac transcriptional reprogramming in human ischemic heart failure

(2018) Mark E. Pepin et al.   LABORATORY INVESTIGATION

Reducing anthracycline-induced cardiotoxicity through pharmacogenetics

(2018) Erika Scott et al.   PHARMACOGENOMICS

Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals

(2018) Valerie D. Myers et al.   JAMA Cardiology

Functional Annotation of TNNT2 Variants of Uncertain Significance With Genome-Edited Cardiomyocytes

(2018) Wenjian Lv et al.   CIRCULATION

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

(2018) David R. Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic and Genomic Consultation: Are We Ready for Direct-to-Consumer Telegenetics?

(2018) Li Du et al.   Frontiers in Genetics

Lysosomal storage disorders affecting the heart: a review

(2018) Vidhya Nair et al.   CARDIOVASCULAR PATHOLOGY

Evolving concepts in dilated cardiomyopathy

(2017) Marco Merlo et al.   EUROPEAN JOURNAL OF HEART FAILURE

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

(2017) Austin Bland et al.   GENETICS IN MEDICINE

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

(2017) Upasana Tayal et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Hypertrophic obstructive cardiomyopathy

(2017) Josef Veselka et al.   LANCET

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

(2017) Petr G. Vikhorev et al.   Scientific Reports

Genetics and genomics of dilated cardiomyopathy and systolic heart failure

(2017) Upasana Tayal et al.   Genome Medicine

Genetic Insurance Discrimination in Sudden Arrhythmia Death SyndromesCLINICAL PERSPECTIVE

(2017) Saira Mohammed et al.   Circulation-Cardiovascular Genetics

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

(2016) Joeri A. Jansweijer et al.   EUROPEAN JOURNAL OF HEART FAILURE

The Diagnosis and Evaluation of Dilated Cardiomyopathy

(2016) Alan G. Japp et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease

(2016) Maria Gallego-Delgado et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dystrophin-Deficient Cardiomyopathy

(2016) Forum Kamdar et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure

(2016) J. Gustav Smith et al.   PLoS Genetics

A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes

(2015) Magdalena Harakalova et al.   EUROPEAN JOURNAL OF HEART FAILURE

Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy

(2015) Mark R. Hazebroek et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Left ventricular non-compaction cardiomyopathy

(2015) Jeffrey A Towbin et al.   LANCET

A Contemporary Appraisal of the Heart Failure Epidemic in Olmsted County, Minnesota, 2000 to 2010

(2015) Yariv Gerber et al.   JAMA Internal Medicine

Diagnosis, prevalence, and screening of familial dilated cardiomyopathy

(2015) Mary E Sweet et al.   Expert Opinion on Orphan Drugs

Pharmacogenetic Risk Stratification in Angiotensin-Converting Enzyme Inhibitor-Treated Patients with Congestive Heart Failure: A Retrospective Cohort Study

(2015) Karl Emil Nelveg-Kristensen et al.   PLoS One

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

(2014) Maria Franaszczyk et al.   Journal of Translational Medicine

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

(2013) Santhi K. Ganesh et al.   CIRCULATION

Genetic Cardiomyopathies Causing Heart Failure

(2013) Thomas J. Cahill et al.   CIRCULATION RESEARCH

Forecasting the Impact of Heart Failure in the United States

(2013) Paul A. Heidenreich et al.   Circulation-Heart Failure

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

(2013) Benjamin Meder et al.   EUROPEAN HEART JOURNAL

Genetic mutations and mechanisms in dilated cardiomyopathy

(2013) Elizabeth M. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

2013 ACCF/AHA Guideline for the Management of Heart Failure

(2013) Clyde W. Yancy et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema

(2013) Guillaume Pare et al.   Pharmacogenetics and Genomics

Genome-Wide Association Study of Cardiac Structure and Systolic Function in African Americans

(2012) Ervin R. Fox et al.   Circulation-Cardiovascular Genetics

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

(2012) Neal K. Lakdawala et al.   JOURNAL OF CARDIAC FAILURE

Truncations of Titin Causing Dilated Cardiomyopathy

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

Hypertrophy-Associated Polymorphisms Ascertained in a Founder Cohort Applied to Heart Failure Risk and Mortality

(2011) Afshin Parsa et al.   CTS-Clinical and Translational Science

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

Diagnosis and management of peripartum cardiomyopathy

(2011) L. A. Blauwet et al.   HEART

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy

(2011) Ray E. Hershberger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

(2011) T. P. Cappola et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy

(2010) Karin Y. van Spaendonck-Zwarts et al.   CIRCULATION

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

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

Association of Genome-Wide Variation With the Risk of Incident Heart Failure in Adults of European and African Ancestry

(2010) Nicholas L. Smith et al.   Circulation-Cardiovascular Genetics

Common Variants in HSPB7 and FRMD4B Associated With Advanced Heart Failure

(2010) Thomas P. Cappola et al.   Circulation-Cardiovascular Genetics

Genomic Variation Associated With Mortality Among Adults of European and African Ancestry With Heart Failure

(2010) Alanna C. Morrison et al.   Circulation-Cardiovascular Genetics

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

(2010) P. Charron et al.   EUROPEAN HEART JOURNAL

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

(2010) Michael V Zaragoza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Z-Disc Genes in Hypertrophic Cardiomyopathy

(2010) J. Martijn Bos et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dilated cardiomyopathy

(2010) John Lynn Jefferies et al.   LANCET

Epidemiology and risk profile of heart failure

(2010) Anh L. Bui et al.   Nature Reviews Cardiology

Genetic discrimination in private insurance: global perspectives

(2010) Yann Joly et al.   NEW GENETICS AND SOCIETY

Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy

(2010) Klaus Stark et al.   PLoS Genetics

Left ventricular non-compaction: Genetic heterogeneity, diagnosis and clinical course

(2009) Gabriella Captur et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease

(2009) Michael Gramlich et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Clinical and Genetic Modifiers of Long-Term Survival in Heart Failure

(2009) Sharon Cresci et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

(2009) Katharine M. Brauch et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiovascular pharmacogenomics and individualized drug therapy

(2009) Naveen L. Pereira et al.   Nature Reviews Cardiology

Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

(2009) Josef Finsterer   PEDIATRIC CARDIOLOGY

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY