{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:19:30Z","timestamp":1790889570143,"version":"4.1.0"},"reference-count":48,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,2,10]],"date-time":"2025-02-10T00:00:00Z","timestamp":1739145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Pediatric hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder in children and a leading cause of sudden cardiac death (SCD) among the young. Its phenotypic variability, driven by incomplete penetrance and variable expressivity, presents significant challenges in diagnosis and clinical management. Methods: In this study, we report a unique case of a 16-month-old female diagnosed with HCM caused by a rare genetic deletion. Molecular analysis was performed using a multigene panel and chromosomal microarray analysis (CMA). Results: Molecular tests identified a 30 kb deletion encompassing the MYH6 and MYH7 genes. These genes are critical components of sarcomeric architecture, with known associations to HCM and other cardiomyopathies. Conclusions: This case underscores the clinical and genetic heterogeneity of HCM, highlighting the importance of considering genomic deletions involving key sarcomeric genes in the diagnostic evaluation.<\/jats:p>","DOI":"10.3390\/genes16020212","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T09:36:05Z","timestamp":1739266565000},"page":"212","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4969-1321","authenticated-orcid":false,"given":"Giancarlo","family":"Mancuso","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Marsan","sequence":"additional","affiliation":[{"name":"Pediatric and Rare Diseases Clinic, Microcitemico Hospital \u201cA. Cao\u201d, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Neroni","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Department of Surgical Sciences, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consolata","family":"Soddu","sequence":"additional","affiliation":[{"name":"Pediatric and Rare Diseases Clinic, Microcitemico Hospital \u201cA. Cao\u201d, ASL 8 Cagliari, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Lai","sequence":"additional","affiliation":[{"name":"Pediatric and Rare Diseases Clinic, Microcitemico Hospital \u201cA. Cao\u201d, ASL 8 Cagliari, 09121 Cagliari, Italy"},{"name":"Unit of Oncology and Molecular Pathology, Department of Biomedical Sciences, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Serventi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2652-0330","authenticated-orcid":false,"given":"Milena","family":"Cau","sequence":"additional","affiliation":[{"name":"Genetic and Genomic Laboratory, Pediatric Children Hospital \u201cA. Cao\u201d, ASL 8 Cagliari, 09121 Cagliari, Italy"},{"name":"Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1039-5486","authenticated-orcid":false,"given":"Alessandra","family":"Coiana","sequence":"additional","affiliation":[{"name":"Genetic and Genomic Laboratory, Pediatric Children Hospital \u201cA. Cao\u201d, ASL 8 Cagliari, 09121 Cagliari, Italy"},{"name":"Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Incani","sequence":"additional","affiliation":[{"name":"Genetic and Genomic Laboratory, Pediatric Children Hospital \u201cA. Cao\u201d, ASL 8 Cagliari, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Murru","sequence":"additional","affiliation":[{"name":"Genetic and Genomic Laboratory, Pediatric Children Hospital \u201cA. Cao\u201d, ASL 8 Cagliari, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Savasta","sequence":"additional","affiliation":[{"name":"Pediatric and Rare Diseases Clinic, Microcitemico Hospital \u201cA. Cao\u201d, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e024220","DOI":"10.1161\/JAHA.121.024220","article-title":"Pediatric Hypertrophic Cardiomyopathy: Exploring the Genotype-Phenotype Association","volume":"11","author":"Nguyen","year":"2022","journal-title":"J. Am. Heart Assoc."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1161\/CIRCRESAHA.117.311059","article-title":"Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy","volume":"121","author":"Marian","year":"2017","journal-title":"Circ. 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