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Pezzoli, Laura; Pezzani, Lidia; Bonanomi, Ezio; Marrone, Chiara; Scatigno, Agnese; Cereda, Anna; Bedeschi, Maria Francesca; Selicorni, Angelo; Gasperini, Serena; Bini, Paolo; Maitz, Silvia; Maccioni, Carla; Pedron, Cristina; Colombo, Lorenzo; Marchetti, Daniela; Bellini, Matteo; Lincesso, Anna Rita; Perego, Loredana; Pingue, Monica; Della Malva, Nunzia; Mangili, Giovanna; Ferrazzi, Paolo; Iascone, Maria
Journal of cardiovascular development and disease, 12/2021, Volume: 9, Issue: 1Journal Article
Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient's critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients' clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.
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