Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options Article Swipe
Related Concepts
Medicine
Genetic testing
Yield (engineering)
Intensive care medicine
Bioinformatics
Internal medicine
Biology
Materials science
Metallurgy
Adelaide Ballerini
,
Francesca Girolami
,
Alessia Gozzini
,
Silvia Passantino
,
Mattia Zampieri
,
Alberto Marchi
,
Alessia Tomberli
,
G Calabri
,
Gaia Spaziani
,
Giulio Porcedda
,
Elena Bennati
,
Silvia Favilli
,
Iacopo Olivotto
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/mgg3.70119
· OA: W4412192747
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/mgg3.70119
· OA: W4412192747
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.
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