A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

@article{vanderZwaag2009AGV,
  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},
  year={2009},
  volume={30}
}
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… 

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TLDR
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.

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TLDR
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

TLDR
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.

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TLDR
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.

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TLDR
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.

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TLDR
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

TLDR
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.
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