(Q37994613)

26 August 2017

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature (English)

1 reference

26 August 2017

Brittney Murray

1

1 reference

26 August 2017

17 March 2012

1 reference

Journal of Genetic Counseling

26 August 2017

1 reference

26 August 2017

21

1 reference

26 August 2017

4

1 reference

26 August 2017

494-504

1 reference

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

26 August 2017

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Pregnancy in women with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Embryonic heart and skin defects in mice lacking plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Misdiagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

An updated review of implantable cardioverter/defibrillators, induced anxiety, and quality of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Does sports activity enhance the risk of sudden death in adolescents and young adults?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular dysplasia: a United States experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

General and disease-specific psychosocial adjustment in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy with implantable cardioverter defibrillators: a large cohort study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Right ventricular dysplasia: a report of 24 adult cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Pitfalls in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Familial occurrence of right ventricular dysplasia: a study involving nine families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Implantable cardioverter-defibrillators in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Examining the psychosocial impact of implantable cardioverter defibrillators: a literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Genetics of right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Cardiac transplantation in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Right ventricular cardiomyopathy and sudden death in young people

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Genetic counselling in the era of genomic medicine. As we move towards personalized medicine, it becomes more important to help patients understand genetic tests and make complex decisions about their health

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: a role for genotyping in decision-making?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Implantable cardioverter/defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Arrhythmogenic right ventricular cardiomyopathy. Antiarrhythmic drugs, catheter ablation, or ICD?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Load-Reducing Therapy Prevents Development of Arrhythmogenic Right Ventricular Cardiomyopathy in Plakoglobin-Deficient Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Age- and Training-Dependent Development of Arrhythmogenic Right Ventricular Cardiomyopathy in Heterozygous Plakoglobin-Deficient Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Evidence of Apoptosis in Arrhythmogenic Right Ventricular Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Mutational Heterogeneity, Modifier Genes, and Environmental Influences Contribute to Phenotypic Diversity of Arrhythmogenic Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9497-7

Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention

21 January 2018

1 reference

12 December 2020

Arrhythmogenic right ventricular dysplasia

1 reference

12 December 2020

Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different diseases?

1 reference

12 December 2020

In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Arrhythmogenic right ventricular cardiomyopathy: a paradigm of overlapping disorders

1 reference

12 December 2020

Pathophysiology of arrhythmogenic cardiomyopathy

1 reference

12 December 2020

Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies

1 reference

12 December 2020

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria

1 reference

12 December 2020

Differences and similarities between arrhythmogenic right ventricular cardiomyopathy and athlete's heart adaptations

1 reference

12 December 2020

Arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy

1 reference

12 December 2020

Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity

1 reference

12 December 2020

Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease. Results in patients with inducible and noninducible ventricular tachycardia

1 reference

12 December 2020

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

1 reference

12 December 2020

Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21

1 reference

12 December 2020

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies

1 reference

12 December 2020

Arrhythmogenic right ventricular cardiomyopathy: an update

1 reference

12 December 2020

Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.

1 reference

12 December 2020

Right ventricular cardiomyopathy: is there evidence of an inflammatory aetiology?

1 reference

12 December 2020

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

1 reference

12 December 2020

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

1 reference

12 December 2020

Electrocardiology of 4 cases of right ventricular dysplasia inducing arrhythmia

1 reference

12 December 2020

10.1007/S10897-012-9497-7

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22426942