A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

  title={A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy},
  author={Paul A van der Zwaag and Jan D. H. Jongbloed and Maarten P. van den Berg and Jasper van der Smagt and Roselie J. E. Jongbloed and Hennie Bikker and Robert M.W. Hofstra and J. Peter van Tintelen},
  journal={Human Mutation},
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathogenicity of variants is not always clear. Therefore, we created an online database (www.arvcdatabase.info), providing information on variants in ARVD/C‐associated genes. We searched the literature… 

The ARVD/C Genetic Variants Database: 2014 Update

This comprehensive collection ofACM genetic data represents a valuable source of information on the spectrum of ACM‐associated genes and aims to facilitate the interpretation of genetic data and genetic counseling.

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Update on Genes Associated with Arrhythmogenic Cardiomyopathy

Recent advances in the knowledge regarding the genetic basis of arrhythmogenic cardiomyopathy are focused on, suggesting the existence of unknown genes as well as other genome alterations not yet discovered.

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

The gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients, and is found in segment 1A of the desmin rod domain.

Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management

Therapeutic options in symptomatic patients include antiarrhythmic drugs, catheter ablation, and ICD implantation, and patients with AC and also all pathogenic mutation carriers should be advised against practising competitive and endurance sports.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

This chapter provides an overview of ARVC/D pathophysiology, clinical presentations, diagnosis, and manage‐ ment with significant advancement in the diagnosis and management in the past few decades.

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients

The prevalence of the majority of non-pathological genetic variations is similar in theLatvian ARVD-C patients and the European population, which could mean that PKP2 and DSG2 are not the most commonly affected genes in the Latvian population.



Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.

Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

A new dominant mutation in desmoplakin is described that causes left-sided ARVC, with arrhythmias of LV origin, lateral T-wave inversion, and late gadolinium enhancement in the LV on magnetic resonance images.

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

This Review summarizes the known genetic mutations associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy, describes possible origins of recurrent mutations, presents theories on the pathogenesis of disease following a mutation, and discusses the current issues surrounding clinical use of genetic analysis in the assessment of individuals with this condition.

Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Background— Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). Hence, genetic screening can potentially be a

Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated With Mutations in Plakophilin-2

Patients with a PKP2 mutation experience ICD interventions irrespective of the classic risk factors determining ICD intervention in ARVD/C patients, and presence of prior spontaneous ventricular tachycardia was identified as predictors of implanted cardioverter/defibrillator (ICD) intervention only among patients without a PKp2 mutation.

A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

Data indicate that a novel gene causing familial ARVD (provisionally named ARVD2) maps to the long arm of chromosome 14, thus supporting the hypothesis of genetic heterogeneity in this disease.

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

For the first time, mutations in desmocollin-2 are identified in patients with ARVD/C, a finding that is consistent with the hypothesis that ARV/C is a disease of the desmosome.

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

It is reported that mutations in DSG2 contribute to the development of ARVD/C, and this gene encodes desmoglein-2, a component of the cardiac desmosome.

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex.