{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T18:27:59Z","timestamp":1793298479388,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Pediatric cardiomyopathies (CM) are rare and heterogeneous heart disorders, including hypertrophic, dilated, restrictive, arrhythmogenic, and non\u2010dilated CM. While their genetic basis is well characterized in adults, it remains less clearly defined in children particularly in early\u2010onset apparently isolated and syndromic forms. We conducted a retrospective study (2018\u20132024) of 59 pediatric patients who underwent Whole\u2010Exome Sequencing (WES) for CM at Amiens and Lille University Hospitals, aiming to characterize the genetic architecture of pediatric CM. WES identified at least one Variant Of Interest (VOI) in 62.7% of patients (37\/59), including 45.8% (27\/59) of P\/LP variants, and 16.9% (10\/59) of VUS. VOI identification yields for HCM and DCM were respectively 67.7% and 57.1%. Yield was higher in patients diagnosed before 1\u2009year of age compared with those diagnosed later (72.7% vs. 56.7%). Variants were identified in classical CM genes, including sarcomeric genes, but also in less typical and syndromic genes. Among patients diagnosed before 6\u2009months, 55% carried a variant in genes associated with syndromic cardiomyopathy, including cases with initially isolated cardiac phenotypes. These findings support the use of WES as a first\u2010line approach in pediatric CM and highlight the contribution of complex and syndromic genetic architectures to early\u2010onset and severe diseases.<\/jats:p>","DOI":"10.1111\/cge.70230","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T06:01:17Z","timestamp":1786687277000},"page":"622-626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole\u2010Exome Sequencing: Insights Into Early\u2010Onset and Syndromic Forms"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8125-9816","authenticated-orcid":false,"given":"Luana","family":"Giovannangeli","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Constitutionnelle CHU Amiens\u2010Picardie  Amiens 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