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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Mireia Alcalde1, Oscar Campuzano, Georgia Sarquella-Brugada

  • 1Cardiovascular Genetics Centre, IDIBGI-University of Girona, C/Pic de Peguera 11, 17003, Girona, Spain.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|November 16, 2014
PubMed

Insights

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition causing fibrofatty tissue replacement. Genetic advances aid in diagnosing ARVC, improving clinical practice for this condition linked to sudden cardiac death.

Area of Science:

  • Cardiology
  • Genetics
  • Inherited Cardiac Diseases

Background:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary inherited cardiac disease.
  • It involves fibrofatty replacement of the myocardium, predominantly in the right ventricle.
  • ARVC can lead to sudden cardiac death, particularly in young males during physical activity.

Purpose of the Study:

  • To review recent genetic advances in arrhythmogenic right ventricular cardiomyopathy.
  • To discuss the interpretation and clinical application of genetic data in ARVC diagnosis.
  • To address the challenge of genetic variants of unknown significance in ARVC.

Main Methods:

  • Review of current literature on ARVC genetics.
  • Analysis of genetic technologies and their impact on ARVC diagnosis.
  • Discussion of gene-disease associations and variant interpretation.

Main Results:

  • Thirteen genes are currently associated with ARVC.
  • Approximately 40% of clinically diagnosed ARVC cases lack a genetic diagnosis.
  • New genetic technologies generate substantial data on novel genes, often of ambiguous significance.

Conclusions:

  • Genetic testing is crucial for diagnosing ARVC.
  • Advances in genetic analysis are improving diagnostic yield.
  • Effective interpretation of genetic data is essential for clinical practice in ARVC.

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