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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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The ARVD/C genetic variants database: 2014 update

Elisabetta Lazzarini1, Jan D H Jongbloed, Kalliopi Pilichou

  • 1Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Human Mutation
|February 14, 2015
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) is an inherited heart condition. Genetic databases now track over 1,400 variants in 12 ACM genes, aiding in understanding and diagnosing this disease.

Area of Science:

  • Cardiovascular Genetics
  • Inherited Cardiac Diseases

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease.
  • It is characterized by fibro-fatty replacement of the myocardium, leading to ventricular arrhythmias and sudden death.

Purpose of the Study:

  • To update and expand the Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Genetic Variants Database.
  • To provide a comprehensive resource for ACM-associated genetic variants to aid interpretation and genetic counseling.

Main Methods:

  • Collected genetic data from over 160 publications.
  • Updated the ARVD/C database to include over 1,400 variants in 12 ACM-related genes as of April 20, 2014.

Main Results:

  • The updated database contains over 1,400 variants in 12 ACM-related genes.
  • Only 411 of these variants are currently reported as pathogenic, with the significance of approximately 1,000 variants remaining unknown.

Conclusions:

  • The expanded ARVD/C database is a valuable resource for ACM genetic data.
  • This collection facilitates the interpretation of genetic variants and supports genetic counseling for arrhythmogenic cardiomyopathy.

Keywords:
cardiomyopathydatabasegenetics

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