儿童心肌病基因检测的产出：对新型治疗方案的影响
Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options.
作者信息
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
机构信息
Cardiogenetic Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
Cardiology Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
出版信息
Mol Genet Genomic Med. 2025 Jul;13(7):e70119. doi: 10.1002/mgg3.70119.
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.
小儿心肌病是罕见、异质性且具有挑战性的病症，通常具有遗传病因。我们估计了小儿心肌病队列中基因检测的阳性率，并根据基因检测结果评估了当前或新兴治疗方法的潜在适用性。超过三分之一的患者进行了确定性基因检测，其中25%是新兴精准疗法或开发药物选择的潜在候选者。
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