: 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.
Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options / Ballerini, Adelaide; Girolami, Francesca; Gozzini, Alessia; Passantino, Silvia; Zampieri, Mattia; Marchi, Alberto; Tomberli, Alessia; Calabri, Giovanni B; Spaziani, Gaia; Porcedda, Giulio; Bennati, Elena; Favilli, Silvia; Olivotto, Iacopo. - In: MOLECULAR GENETICS & GENOMIC MEDICINE. - ISSN 2324-9269. - STAMPA. - 13:(2025), pp. e70119.1-e70119.3. [10.1002/mgg3.70119]
Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options
Ballerini, Adelaide;Girolami, Francesca;Gozzini, Alessia;Passantino, Silvia;Zampieri, Mattia;Marchi, Alberto;Tomberli, Alessia;Spaziani, Gaia;Favilli, Silvia;Olivotto, Iacopo
2025
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.
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