{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T11:36:11Z","timestamp":1780572971776,"version":"3.54.1"},"reference-count":53,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T00:00:00Z","timestamp":1678060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Nora Eccles Harrison Treadwell Foundation","award":["10038331"],"award-info":[{"award-number":["10038331"]}]},{"name":"Nora Eccles Harrison Treadwell Foundation","award":["R01-HL-130424"],"award-info":[{"award-number":["R01-HL-130424"]}]},{"name":"Nora Eccles Harrison Treadwell Foundation","award":["F32-HL-144034"],"award-info":[{"award-number":["F32-HL-144034"]}]},{"name":"Nora Eccles Harrison Treadwell Foundation","award":["1K08 HG010490"],"award-info":[{"award-number":["1K08 HG010490"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["10038331"],"award-info":[{"award-number":["10038331"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01-HL-130424"],"award-info":[{"award-number":["R01-HL-130424"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["F32-HL-144034"],"award-info":[{"award-number":["F32-HL-144034"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1K08 HG010490"],"award-info":[{"award-number":["1K08 HG010490"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Marjorie K. Harmer endowment for research in Pediatric Pathology","award":["10038331"],"award-info":[{"award-number":["10038331"]}]},{"name":"Marjorie K. Harmer endowment for research in Pediatric Pathology","award":["R01-HL-130424"],"award-info":[{"award-number":["R01-HL-130424"]}]},{"name":"Marjorie K. Harmer endowment for research in Pediatric Pathology","award":["F32-HL-144034"],"award-info":[{"award-number":["F32-HL-144034"]}]},{"name":"Marjorie K. Harmer endowment for research in Pediatric Pathology","award":["1K08 HG010490"],"award-info":[{"award-number":["1K08 HG010490"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting hypertrophic cardiomyopathy (HCM) and biventricular heart failure carrying a truncating homozygous MYBPC3 variant c.1224-52G&gt;A (IVS13-52G&gt;A) and a novel homozygous variant (c.302A&gt;G; p.Asn101Ser) in the SMYD1 gene. The second patient, the proband\u2019s sibling, is a male infant diagnosed with hypertrophic cardiomyopathy and carries the same homozygous MYBPC3 variant. While this specific MYBPC3 variant (c.1224-52G&gt;A, IVS13-52G&gt;A) has been previously reported to be associated with adult-onset hypertrophic cardiomyopathy, this is the first report linking it to infantile cardiomyopathy. In addition, this work describes, for the first time, a novel SMYD1 variant (c.302A&gt;G; p.Asn101Ser) that has never been reported. We performed a histopathological evaluation of tissues collected from both probands and show that these variants lead to myofibrillar disarray, reduced and irregular mitochondrial cristae and cardiac fibrosis. Together, these results provide critical insight into the molecular functionality of these genes in human cardiac physiology.<\/jats:p>","DOI":"10.3390\/genes14030659","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T05:18:43Z","timestamp":1678079923000},"page":"659","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5412-8219","authenticated-orcid":false,"given":"Marta W.","family":"Szulik","sequence":"first","affiliation":[{"name":"Nora Eccles Harrison Cardiovascular Research & Training Institute, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5698-3702","authenticated-orcid":false,"given":"Miguel","family":"Reyes-M\u00fagica","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel F.","family":"Marker","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana M.","family":"Gomez","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew D.","family":"Zinn","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie K.","family":"Walsh","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Pablo","family":"Ochoa","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of A Coru\u00f1a, 15006 A Coru\u00f1a, Spain"},{"name":"Cardiovascular Genetics, Health In Code, 15008 A Coru\u00f1a, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Franklin","sequence":"additional","affiliation":[{"name":"Nora Eccles Harrison Cardiovascular Research & Training Institute, University of Utah, Salt Lake City, UT 84112, USA"},{"name":"Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84112, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Ghaloul-Gonzalez","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA"},{"name":"Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1161\/CIRCRESAHA.116.309386","article-title":"Pediatric Cardiomyopathies","volume":"121","author":"Lee","year":"2017","journal-title":"Circ. 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