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

No abstract is available for this paper.

• Publication year

  2005

• Venue

  European Heart Journal

• Publication date

  2005-08-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/EURHEARTJ/EHI341PMID 15941723
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2004cited by this paper
• Structural and molecular pathology of the heart in Carvajal syndrome.

  2004cited by this paper
• Arrhythmogenic Right Ventricular Dysplasia A Recessive Mutation in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia, Skin Disorder, and Woolly Hair

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

  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
• Plakins: a family of versatile cytolinker proteins.

  2002cited by this paper
• Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.

  2001cited by this paper
• Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

  2001cited by this paper
• Naxos disease: keratoderma, scalp modifications, and cardiomyopathy.

  2001cited 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 PSIPRED protein structure prediction server

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

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  2000cited by this paper
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  2000cited by this paper
• Miocardiopatía dilatada en las displasias del ectodermo. Observaciones electroecocardiográficas en la hiperqueratosis palmoplantar con pelo lanoso

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• Erratum: Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma (Human Molecular Genetics (1999) 8 (143-148))

  1999cited by this paper
• Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

  1999cited by this paper
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  1998cited by this paper
• In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy.

  1998cited by this paper
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  1998cited by this paper
• Arrhythmogenic Right Ventricular Cardiomyopathy: Which Role for Apoptosis?

  1998cited by this paper
• The Amino-terminal Domain of Desmoplakin Binds to Plakoglobin and Clusters Desmosomal Cadherin–Plakoglobin Complexes

  1997cited by this paper
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• Current Challenges in Cardiac Device Management: Guidance for Practicing Clinicians: A Canadian Journal of Cardiology White Paper.

  2026cites this paper
• Naxos Disease and Related Cardio-Cutaneous Syndromes

  2025cites this paper
• Disease Penetrance and Phenotypic Spectrum of Desmoplakin Variant Carriers in the Population.

  2025cites this paper
• The Diagnostic and Prognostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy

  2025cites this paper
• Desmosomal Versus Non-Desmosomal Arrhythmogenic Cardiomyopathies: A State-of-the-Art Review

  2025cites this paper
• Shaping cardiac diagnostics: The role of myocardial tissue mapping in unraveling ring-like fibrosis

  2025cites this paper
• Statin effect on arrhythmogenic cardiomyopathy disease progression (SEARCH): Randomized clinical study protocol

  2025cites this paper
• Desmoplakin Cardiomyopathy: Role of Inflammation and Potential Role of Disease-Modifying Therapies

  2025cites this paper
• Imaging features of desmoplakin arrhythmogenic cardiomyopathy: A comparative cardiovascular magnetic resonance study

  2025influential citation
• Acute Heart Failure and Non-Ischemic Cardiomyopathies: A Comprehensive Review and Critical Appraisal

  2025cites this paper
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  2025cites this paper
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  2025cites this paper
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  2025cites this paper
• Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies

  2025cites this paper
• Desmoplakin Cardiomyopathy: Gene Dose-Dependent Myocardial Remodeling, Arrhythmias, and Premature Death.

  2025cites this paper
• Desmoplakin cardiomyopathy: a step towards understanding the genetic basis of phenotypic and outcome heterogeneity.

  2024cites this paper
• Risk Assessment and Personalized Treatment Options in Inherited Dilated Cardiomyopathies: A Narrative Review

  2024cites this paper
• The Desmoplakin Phenotype Spectrum: Is the Inflammation the “Fil Rouge” Linking Myocarditis, Arrhythmogenic Cardiomyopathy, and Uncommon Autoinflammatory Systemic Disease?

  2024cites this paper
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  2024cites this paper
• Circadian and Seasonal Pattern of Arrhythmic Events in Arrhythmogenic Cardiomyopathy Patients

  2023cites this paper
• Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening

  2023cites this paper
• Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

  2023influential citation
• Right Ventricle and Epigenetics: A Systematic Review

  2023cites this paper
• Multimodality Imaging in Arrhythmogenic Left Ventricular Cardiomyopathy

  2023cites this paper
• The pivotal role of compelling high-risk electrocardiographic markers in prediction of ventricular arrhythmic risk in arrhythmogenic right ventricular cardiomyopathy: A systematic review and meta-analysis.

  2023cites this paper
• The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy: Novel ECG Signs.

  2023cites this paper
• Cheek-Pro-Heart: What Can the Buccal Mucosa Do for Arrhythmogenic Cardiomyopathy?

  2023cites this paper
• Desmosomal Arrhythmogenic Cardiomyopathy: The Story Telling of a Genetically Determined Heart Muscle Disease

  2023cites this paper
• Obituary for Frank Marcus, outstanding medical scientist of right ventricular dysplasia/cardiomyopathy.

  2023cites this paper
• Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models

  2023cites this paper
• MRI Findings in Desmoplakin-related Arrhythmogenic Left Ventricular Cardiomyopathy in a Pediatric Patient: A Case Report.

  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
• A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

  2023cites this paper
• CLINICAL PROFILE AND LONG-TERM FOLLOW-UP OF A COHORT OF PATIENTS WITH DESMOPLAKIN CARDIOMYOPATHY.

  2022cites this paper
• Association of Premature Ventricular Contraction Burden on Serial Holter Monitoring With Arrhythmic Risk in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy.

  2022cites this paper
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  2022cites this paper
• Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2021cites this paper
• Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

  2021cites this paper
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  2021cites this paper
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• Creating a ‘Molecular Band-Aid’; Blocking an Exposed Protease Target Site in Desmoplakin

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