Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options.

Authors

Adelaide Ballerini, Francesca Girolami, Alessia Gozzini, Silvia Passantino, Mattia Zampieri, Alberto Marchi, Alessia Tomberli, Giovanni B Calabri, Gaia Spaziani, Giulio Porcedda, Elena Bennati, Silvia Favilli, Iacopo Olivotto

Published in

Molecular genetics & genomic medicine. Volume 13. Issue 7. Pages e70119.

Abstract

Pediatric cardiomyopathies are rare, heterogeneous, and challenging conditions, often with a genetic etiology. We estimated the yield of genetic testing in a pediatric cohort with cardiomyopathies and evaluated the potential candidacy to current or emerging treatments based on genetic results. Over one-third had a conclusive genetic test, including 25% of potential candidates for emerging precision therapies or developing pharmacological options.

PMID:
40642871
Bibliographic data and abstract were imported from PubMed on 11 Jul 2025.

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