Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Unknown venue

• Publication date

  2014-01-09

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/978-3-540-38918-7_5195
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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

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• Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC)

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• Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

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• Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy

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• Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy

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• Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy: Impact of Genetics and Revised Task Force Criteria

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• Desmosomal mutations across the fence.

  2011cited by this paper
• Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

  2011cited by this paper
• Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy

  2010cited by this paper
• Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia

  2010cited by this paper
• Cardiac magnetic resonance predicts outcome in patients with premature ventricular complexes of left bundle branch block morphology.

  2010cited by this paper
• Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy

  2010cited by this paper
• Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

  2010cited by this paper
• Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

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• Prevalence of Left Ventricular Regional Dysfunction in Arrhythmogenic Right Ventricular Dysplasia: A Tagged MRI Study

  2010cited by this paper
• The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy

  2010cited by this paper
• Arrhythmia and right heart disease: from genetic basis to clinical practice.

  2010cited by this paper
• Long QT syndrome: a double hit hurts more.

  2010cited by this paper
• The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies: From Gene to Disease

  2010cited by this paper
• Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

  2010cited by this paper
• Cardiac MRI in arrhythmogenic right ventricular cardiomyopathy.

  2010cited by this paper
• Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

  2010cited by this paper
• Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment.

  2010cited by this paper
• Right ventricular cardiomyopathy in the young: an emerging challenge.

  2009cited by this paper
• Sudden Deaths in Young Competitive Athletes: Analysis of 1866 Deaths in the United States, 1980–2006

  2009cited by this paper
• Arrhythmogenic right ventricular cardiomyopathy: an update

  2009influential reference
• A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

  2009cited by this paper
• Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?

  2009cited by this paper
• Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

  2008cited by this paper
• Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

  2008cited by this paper
• Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy

  2008cited by this paper
• A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

  2008cited by this paper
• A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.

  2007cited by this paper
• Clinical and Genetic Characterization of Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Provides Novel Insights Into Patterns of Disease Expression

  2007cited by this paper
• Review on the genetics of arrhythmogenic right ventricular dysplasia.

  2007cited by this paper
• Echocardiographic quantification of myocardial function using tissue deformation imaging, a guide to image acquisition and analysis using tissue Doppler and speckle tracking

  2007cited by this paper
• Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy.

  2006cited by this paper
• Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.

  2006cited by this paper
• Arrhythmogenic right ventricular dysplasia/cardiomyopathy. A review and update.

  2006cited by this paper
• DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

  2006cited by this paper
• Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment.

  2006cited by this paper
• Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

  2006cited by this paper
• Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

  2006cited by this paper
• Feasibility and variability of three dimensional echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

  2006cited by this paper
• Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy.

  2006cited by this paper
• Usefulness of magnetic resonance imaging for the diagnosis of right ventricular dysplasia in children.

  2006cited by this paper
• Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype.

  2006cited by this paper
• Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

  2006cited by this paper
• BMC Medical Genetics2006, 7:29 doi:10.1186/1471-2350-7-29

  2005cited by this paper
• Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia.

  2005cited by this paper
• Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

  2005cited by this paper
• Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

  2005cited by this paper
• Genetics of Right Ventricular Cardiomyopathy

  2005cited by this paper
• Three-Dimensional Electroanatomic Voltage Mapping Increases Accuracy of Diagnosing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

  2005cited by this paper
• Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

  2005cited by this paper
• Arrhythmogenic Right Ventricular Dysplasia: A United States Experience

  2005cited by this paper
• Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.

  2005cited by this paper
• Natural History and Risk Stratification of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  2004influential reference
• Arrhythmogenic Right Ventricular Dysplasia A Recessive Mutation in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia, Skin Disorder, and Woolly Hair

  2003influential reference
• Circumstances of Death and Gross and Microscopic Observations in a Series of 200 Cases of Sudden Death Associated With Arrhythmogenic Right Ventricular Cardiomyopathy and/or Dysplasia

  2003cited by this paper
• Risk of competitive sport in young athletes with heart disease

  2003cited by this paper
• Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria.

  2002cited by this paper
• Plakins: a family of versatile cytolinker proteins.

  2002cited by this paper
• Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

  2002cited by this paper
• Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in Familial Polymorphic Ventricular Tachycardia

  2001cited by this paper
• Mutations in the Cardiac Ryanodine Receptor Gene (hRyR2) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia

  2001cited by this paper
• Evolution of Left Ventricular Involvement in Arrhythmogenic Right Ventricular Cardiomyopathy

  2000cited by this paper
• Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

  2000cited by this paper
• The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.

  2000cited by this paper
• Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.

  2000cited by this paper
• Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

  2000cited by this paper
• Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

  1999cited by this paper
• Missense mutations in desmin associated with familial cardiac and skeletal myopathy

  1998cited by this paper
• Screening for hypertrophic cardiomyopathy in young athletes.

  1998cited by this paper
• Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.

  1998cited by this paper
• Defining the Interactions Between Intermediate Filaments and Desmosomes

  1998cited by this paper
• Desmoplakin Is Required Early in Development for Assembly of Desmosomes and Cytoskeletal Linkage

  1998cited by this paper
• Arrhythmogenic right ventricular dysplasia and anterior polar cataract.

  1997cited by this paper
• ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.

  1997cited by this paper
• The Amino-terminal Domain of Desmoplakin Binds to Plakoglobin and Clusters Desmosomal Cadherin–Plakoglobin Complexes

  1997cited by this paper
• Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

  1996cited by this paper
• A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

  1996cited by this paper
• Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients.

  1995cited by this paper
• Right ventricular cardiomyopathy and sudden death in young people.

  1988cited by this paper
• Right Ventricular Dysplasia: A Report of 24 Adult Cases

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• A Review on Cardiogenic Shock and Various Approaches for the Treatment

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• Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

  2017cites this paper
• Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis

  2017cites this paper
• Molecular autopsy in sudden cardiac death – ethical issues and clinical implication for relatives

  2016cites this paper
• Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and cathecholaminergic polymorphic ventricular tachycardia (CPVT): A phenotypic spectrum seen in same patient.

  2015cites this paper
• Arrhythmogenic Right Ventricular Cardiomyopathy: From Surviving to Thriving

  2015cites this paper
• New molecular genetic tests in the diagnosis of heart disease.

  2014influential citation
• A case report of arrhythmogenic right ventricular dysplasia

  2013cites this paper
• Arrhythmogenic right ventricular cardiomyopathy: use of a left ventricular assist device as a bridge to transplantation?

  2013cites this paper