{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T09:41:34Z","timestamp":1790329294912,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,27]],"date-time":"2018-12-27T00:00:00Z","timestamp":1545868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Left ventricular non\u2010compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias.<\/jats:p><jats:p>Fifty\u2010two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32.5%) with single variant and 9 patients with complex genotypes (9.5%). Mutated patients tended to have younger age at diagnosis than patients with no identified mutation. The most prevalent genes were <jats:italic>TTN<\/jats:italic>, then <jats:italic>HCN4, MYH7,<\/jats:italic> and <jats:italic>RYR2<\/jats:italic>. The distribution includes 13 genes previously reported in LVNC and 10 additional candidate genes.<\/jats:p><jats:p>Our results show that LVNC is basically a genetic disease and support genetic counseling and cardiac screening in relatives. There is a large genetic heterogeneity, with predominant <jats:italic>TTN<\/jats:italic> null mutations and frequent complex genotypes. The gene spectrum is close to the one observed in dilated cardiomyopathy but with specific genes such as <jats:italic>HCN4<\/jats:italic>. We also identified new candidate genes that could be involved in this sub\u2010phenotype of cardiomyopathy.<\/jats:p>","DOI":"10.1111\/cge.13484","type":"journal-article","created":{"date-parts":[[2018,11,24]],"date-time":"2018-11-24T15:58:48Z","timestamp":1543075128000},"page":"356-367","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":69,"title":["Targeted panel sequencing in adult patients with left ventricular non\u2010compaction reveals a large genetic heterogeneity"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2390-3005","authenticated-orcid":false,"given":"Pascale","family":"Richard","sequence":"first","affiliation":[{"name":"APHP, Functional Unit of Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique, Service de Biochimie M\u00e9tabolique, H\u00f4pitaux Universitaires de la Piti\u00e9\u2010Salp\u00eatri\u00e8re\u2010Charles Foix  Paris France"},{"name":"Sorbonne Universit\u00e9s, UPMC Univ. 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