[Ten questions about cardiogenetics].

Authors

Federico Fortuni, Andrea Matteucci, Filippo Angelini, Raffaele Abete, Giuseppe Palmiero, Stefania Marazia, Francesca Terzi, Gabriele Di Gesaro, Lara Pozzer, Leonardo Belfioretti, Daniele De Feo, Piergiusto Vitulli, Giulia Zambelli, Andrea Vergara, Nina Ajmone Marsan, Massimo Imazio, Domenico Gabrielli, Fabrizio Oliva, Federico Nardi, Massimo Grimaldi

Published in

Giornale italiano di cardiologia (2006). Volume 27. Issue 11. Pages 758-770.

Abstract

In recent years, cardiogenetics has become a key component in the management of cardiomyopathies and channelopathies, reshaping diagnostic, prognostic, and therapeutic strategies for conditions characterized by substantial clinical heterogeneity and variable arrhythmic risk. However, the use of genetic testing in clinical practice remains challenging and requires careful assessment of test appropriateness, gene panel selection, and result interpretation. In particular, the frequent identification of variants of uncertain significance highlights the need for an integrated approach combining genetic findings, clinical phenotype, family history, and disease-specific features. This review, organized around ten practical questions, aims to provide clinicians with an updated and pragmatic guide to the use of genetic testing in inherited cardiovascular diseases. The manuscript will address when genetic testing should be requested in cardiomyopathies and channelopathies, which genes should be tested across different conditions, and how genetic results should be interpreted according to the underlying disease. It will also discuss the diagnostic and prognostic value of genetic findings, their role in arrhythmic risk stratification and therapeutic decision-making, and the use of cascade genetic testing in family screening. Finally, disease-specific aspects of genetic counseling, ethical implications, and the importance of a multidisciplinary, patient-centered approach will be emphasized.

PMID:
42937170
Bibliographic data and abstract were imported from PubMed on 27 Oct 2026.

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