4.7 Review

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy

Related references

Note: Only part of the references are listed.
Letter Cardiac & Cardiovascular Systems

Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant

Sarah Costa et al.

CARDIOLOGY JOURNAL (2021)

Article Cardiac & Cardiovascular Systems

Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study

Joao B. Augusto et al.

EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING (2020)

Article Cardiac & Cardiovascular Systems

Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant

Peng Chen et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)

Article Cardiac & Cardiovascular Systems

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

Charlotte L. Hall et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)

Editorial Material Cardiac & Cardiovascular Systems

Cardiovascular magnetic resonance imaging volume criteria for arrhythmogenic right ventricular cardiomyopathy: need for update?

Mohammed Y. Khanji et al.

EUROPEAN HEART JOURNAL (2020)

Review Cardiac & Cardiovascular Systems

Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies

Ali J. Marian et al.

CARDIOVASCULAR RESEARCH (2020)

Review Cardiac & Cardiovascular Systems

The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy

Cynthia A. James et al.

EUROPEAN HEART JOURNAL (2020)

Review Medicine, General & Internal

Natural History of Arrhythmogenic Cardiomyopathy

Giulia Mattesi et al.

JOURNAL OF CLINICAL MEDICINE (2020)

Editorial Material Medicine, General & Internal

Virtually Perfect? Telemedicine for Covid-19

Judd E. Hollander et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Cardiac & Cardiovascular Systems

Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria

Domenico Corrado et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)

Article Cardiac & Cardiovascular Systems

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Domenico Corrado et al.

EUROPEAN HEART JOURNAL (2020)

Article Cardiac & Cardiovascular Systems

Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging

Wouter P. te Rijdt et al.

EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING (2019)

Article Cardiac & Cardiovascular Systems

Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy

Thomas Morris Hey et al.

CIRCULATION-HEART FAILURE (2019)

Article Cardiac & Cardiovascular Systems

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

Victoria N. Parikh et al.

CIRCULATION-HEART FAILURE (2019)

Review Medicine, Research & Experimental

Are innovation and new technologies in precision medicine paving a new era in patients centric care?

Attila A. Seyhan et al.

JOURNAL OF TRANSLATIONAL MEDICINE (2019)

Review Cardiac & Cardiovascular Systems

Molecular mechanisms of arrhythmogenic cardiomyopathy

Karyn M. Austin et al.

NATURE REVIEWS CARDIOLOGY (2019)

Article Cardiac & Cardiovascular Systems

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Perry M. Elliott et al.

EUROPEAN JOURNAL OF HEART FAILURE (2019)

Article Cardiac & Cardiovascular Systems

Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

Elizabeth S. DeWitt et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)

Article Cardiac & Cardiovascular Systems

Therapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy

Stephen P. Chelko et al.

CIRCULATION (2019)

News Item Cardiac & Cardiovascular Systems

Leducq Transatlantic Network of Excellence to Cure Phospholamban-Induced Cardiomyopathy (CURE-PLaN)

Pieter A. Doevendans et al.

CIRCULATION RESEARCH (2019)

Article Medicine, General & Internal

The All of Us Research Program

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Review Medicine, Research & Experimental

Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management

Cynthia A. James et al.

ANNUAL REVIEW OF MEDICINE, VOL 70 (2019)

Review Cardiac & Cardiovascular Systems

Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management

Stacey Peters et al.

HEART LUNG AND CIRCULATION (2019)

Article Cardiac & Cardiovascular Systems

Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy

Alexandros Protonotarios et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2019)

Review Pathology

Desmosomes in Human Disease

Nicole A. Najor

ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 13 (2018)

Article Cardiac & Cardiovascular Systems

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

Maarten M. G. van den Hoogenhof et al.

CIRCULATION (2018)

Editorial Material Cardiac & Cardiovascular Systems

Desmin and Cardiac Disease An Unfolding Story

Sonia R. Singh et al.

CIRCULATION RESEARCH (2018)

Article Cardiac & Cardiovascular Systems

Impact of Exercise Restriction on Arrhythmic Risk Among Patients With Arrhythmogenic Right Ventricular Cardiomyopathy

Weijia Wang et al.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2018)

Article Cardiac & Cardiovascular Systems

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

Diptendu Chatterjee et al.

EUROPEAN HEART JOURNAL (2018)

Review Genetics & Heredity

Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies

Babken Asatryan et al.

JOURNAL OF MOLECULAR MEDICINE-JMM (2018)

Review Cardiac & Cardiovascular Systems

Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia JACC State-of-the-Art Review

Estelle Gandjbakhch et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)

Article Cardiac & Cardiovascular Systems

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

Valerie D. Myers et al.

JAMA CARDIOLOGY (2018)

Article Cardiac & Cardiovascular Systems

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

Fernando Dominguez et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)

Editorial Material Biotechnology & Applied Microbiology

An avatar for precision cancer therapy

Shumei Kato et al.

NATURE BIOTECHNOLOGY (2018)

Article Cardiac & Cardiovascular Systems

Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death

Gardar Sveinbjornsson et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)

Letter Cardiac & Cardiovascular Systems

Desmoplakin Variant-Associated Arrhythmogenic Cardiomyopathy Presenting as Acute Myocarditis

Kaitlyn Reichl et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)

Article Cardiac & Cardiovascular Systems

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy

Marzia De Bortoli et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)

Article Cardiac & Cardiovascular Systems

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy

Bongani M. Mayosi et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2017)

Review Cardiac & Cardiovascular Systems

Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis

Edgar T. Hoorntje et al.

CARDIOVASCULAR RESEARCH (2017)

Review Cardiac & Cardiovascular Systems

Refining the molecular organization of the cardiac intercalated disc

Sarah H. Vermij et al.

CARDIOVASCULAR RESEARCH (2017)

Article Cardiac & Cardiovascular Systems

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy

Alexandros Protonotarios et al.

EUROPACE (2016)

Article Genetics & Heredity

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

Andreas Brodehl et al.

HUMAN MUTATION (2016)

Article Cardiac & Cardiovascular Systems

LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort

Koichi Kato et al.

JOURNAL OF CARDIOLOGY (2016)

Article Cardiac & Cardiovascular Systems

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

Martin F. Ortiz-Genga et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)

Article Medicine, General & Internal

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

James S. Ware et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

Article Medicine, Research & Experimental

Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy

Stephen P. Chelko et al.

JCI INSIGHT (2016)

Article Cardiac & Cardiovascular Systems

Characterization of the Left-Sided Substrate in Arrhythmogenic Right Ventricular Cardiomyopathy

Benjamin Berte et al.

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2015)

Article Cardiac & Cardiovascular Systems

Genetics of myocarditis in arrhythmogenic right ventricular dysplasia

Jose Maria Lopez-Ayala et al.

HEART RHYTHM (2015)

Article Medicine, Research & Experimental

A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias

Fang Yuan et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2015)

Review Biochemistry & Molecular Biology

Arrhythmogenic cardiomyopathy and Brugada syndrome: Diseases of the connexome

Esperanza Agullo-Pascual et al.

FEBS LETTERS (2014)

Article Cell Biology

Decreased Levels of BAG3 in a Family With a Rare Variant and in Idiopathic Dilated Cardiomyopathy

Arthur M. Feldman et al.

JOURNAL OF CELLULAR PHYSIOLOGY (2014)

Article Genetics & Heredity

Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy

Francesca Brun et al.

JOURNAL OF MEDICAL GENETICS (2014)

Review Cardiac & Cardiovascular Systems

The MOGE(S) Classification of Cardiomyopathy for Clinicians

Eloisa Arbustini et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2014)

Article Medicine, Research & Experimental

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

Maria Franaszczyk et al.

JOURNAL OF TRANSLATIONAL MEDICINE (2014)

Article Cardiac & Cardiovascular Systems

Novel and Highly Lethal NKX2.5 Missense Mutation in a Family With Sudden Death and Ventricular Arrhythmia

Jennifer L. Perera et al.

PEDIATRIC CARDIOLOGY (2014)

Review Clinical Neurology

Filamin C-related myopathies: pathology and mechanisms

Dieter O. Fuerst et al.

ACTA NEUROPATHOLOGICA (2013)

Article Cardiac & Cardiovascular Systems

The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac

Andreas Brodehl et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2013)

Review Cardiac & Cardiovascular Systems

Arrhythmogenic Right Ventricular Dysplasia

Hugh Calkins

CURRENT PROBLEMS IN CARDIOLOGY (2013)

Article Cardiac & Cardiovascular Systems

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

Annika F. M. Haywood et al.

EUROPEAN HEART JOURNAL (2013)

Article Cardiac & Cardiovascular Systems

Mutations in the area composita protein T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

Jolanda van Hengel et al.

EUROPEAN HEART JOURNAL (2013)

Letter Cardiac & Cardiovascular Systems

Naxos disease evolution mimicking acute myocarditis: The role of cardiovascular magnetic resonance imaging

Sophie Mavrogeni et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)

Article Cardiac & Cardiovascular Systems

Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy A Practical Guide for Physicians

Frank I. Marcus et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2013)

Article Cardiac & Cardiovascular Systems

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

Giovanni Quarta et al.

EUROPEAN HEART JOURNAL (2012)

Article Biochemistry & Molecular Biology

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

Carola Hedberg et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Letter Cardiac & Cardiovascular Systems

Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease

Sophie Mavrogeni et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)

Letter Cardiac & Cardiovascular Systems

Arrhythmogenic right ventricular cardiomyopathy/dysplasia and troponin release. Myocarditis or the hot phase of the disease?

A. P. Patrianakos et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)

Article Medicine, General & Internal

Truncations of Titin Causing Dilated Cardiomyopathy

Daniel S. Herman et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Cardiac & Cardiovascular Systems

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy-Overlap Syndromes

Matthew Taylor et al.

CIRCULATION (2011)

Article Cardiac & Cardiovascular Systems

Altered Desmosomal Proteins in Granulomatous Myocarditis and Potential Pathogenic Links to Arrhythmogenic Right Ventricular Cardiomyopathy

Angeliki Asimaki et al.

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2011)

Article Cardiac & Cardiovascular Systems

Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry

Bruno Pinamonti et al.

EUROPEAN HEART JOURNAL (2011)

Article Cardiac & Cardiovascular Systems

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

William P. McNair et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)

Review Medicine, General & Internal

MECHANISMS OF DISEASE Inherited Cardiomyopathies

Hugh Watkins et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Cardiac & Cardiovascular Systems

Some Previously Neglected Examples of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and Frequency of Its Various Reported Manifestations

William Clifford Roberts et al.

AMERICAN JOURNAL OF CARDIOLOGY (2010)

Review Cardiac & Cardiovascular Systems

The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies From Gene to Disease

Mario Delmar et al.

CIRCULATION RESEARCH (2010)

Article Radiology, Nuclear Medicine & Medical Imaging

Assessment of inflammation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia

Maria E. Campian et al.

EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING (2010)

Article Biochemistry & Molecular Biology

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Baerbel Klauke et al.

HUMAN MOLECULAR GENETICS (2010)

Article Clinical Neurology

Divergent Molecular Effects of Desmin Mutations on Protein Assembly in Myofibrillar Myopathy

Johannes Levin et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2010)

Article Cardiac & Cardiovascular Systems

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

Katharine M. Brauch et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2009)

Review Medicine, General & Internal

Arrhythmogenic right ventricular cardiomyopathy

Cristina Basso et al.

LANCET (2009)

Article Cardiac & Cardiovascular Systems

Left-Dominant Arrhythmogenic Cardiomyopathy

Srijita Sen-Chowdhry et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2008)

Article Clinical Neurology

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

Katharina Strach et al.

NEUROMUSCULAR DISORDERS (2008)

Article Cardiac & Cardiovascular Systems

Expanding spectrum of human RYR2-related disease -: New electrocardiographic, structural, and genetic features

Zahurul A. Bhuiyan et al.

CIRCULATION (2007)

Article Multidisciplinary Sciences

Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy

Prince J. Kannankeril et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Review Cardiac & Cardiovascular Systems

The giant protein titin - A major player in myocardial mechanics, signaling, and disease

HL Granzier et al.

CIRCULATION RESEARCH (2004)

Article Cardiac & Cardiovascular Systems

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

R Alcalai et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)

Article Law

Left side right ventricular cardiomyopathy

M Michalodimitrakis et al.

MEDICINE SCIENCE AND THE LAW (2002)

Review Multidisciplinary Sciences

Cardiac excitation-contraction coupling

DM Bers

NATURE (2002)