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

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

Mol Genet Genomic Med. 2025 Jul;13(7):e70119. doi: 10.1002/mgg3.70119.

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 | DOI:10.1002/mgg3.70119