Related Experiment Video

Updated: May 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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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Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the

Perry Elliott1,2, Heribert Schunkert3,4, Antoine Bondue5

  • 1Department of Inherited Cardiovascular Conditions, Barts Heart Centre, St Bartholomew's Hospital, London, UK.

European Heart Journal
|December 14, 2024
PubMed

Insights

Cardiologists should integrate genetic testing into cardiomyopathy care, following new guidelines. This consensus statement guides genetic test prescription, interpretation, and counseling for patients and families.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Clinical Cardiology

Background:

  • Cardiomyopathies require comprehensive diagnostic evaluation.
  • Genetic testing is increasingly crucial for managing cardiomyopathies.
  • Current clinical practice needs updated guidance on genetic testing integration.

Purpose of the Study:

  • To provide a consensus statement on genetic testing for cardiomyopathies.
  • To guide cardiologists in integrating genetic testing into routine cardiac care.
  • To align with the 2023 European Society of Cardiology (ESC) guidelines.

Main Methods:

  • Clinical consensus development by the ESC Council for Cardiovascular Genomics.
  • Review of current genetic testing modalities for cardiomyopathies.
  • Guidance on prescription, interpretation, and genetic counseling.

Main Results:

  • Detailed description of available genetic tests for cardiomyopathies.
  • Recommendations for the appropriate use of genetic testing.
  • Guidance on managing genetic findings, including variants of unknown significance.

Conclusions:

  • Genetic testing is essential for the modern management of cardiomyopathies.
  • This statement facilitates the implementation of genetic testing in clinical practice.
  • Effective genetic counseling is vital for patients and families affected by cardiomyopathies.

Keywords:
Cardiomyopathiesgenetic testing

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