{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T03:51:31Z","timestamp":1782532291713,"version":"3.54.5"},"reference-count":38,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2024,11,30]],"date-time":"2024-11-30T00:00:00Z","timestamp":1732924800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Vietnam Ministry of Science and Technology for the Institute of Genome Research","award":["\u0110T\u0110L-CN 45\/21"],"award-info":[{"award-number":["\u0110T\u0110L-CN 45\/21"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), is a major cause of heart failure (HF) and a leading indication for heart transplantation. Of these patients, 20\u201350% have a genetic cause, so understanding the genetic basis of cardiomyopathy will provide knowledge about the pathogenesis of the disease for diagnosis, treatment, prevention, and genetic counseling for families. Methods: This study collected nine patients from different Vietnamese families for genetic analysis at The Cardiovascular Center, E Hospital, Hanoi, Vietnam. The patients were diagnosed with cardiomyopathy based on clinical symptoms. Whole-exome sequencing (WES) was performed in the Vietnamese patients to identify variants associated with cardiomyopathy, and the Sanger sequencing method was used to validate the variants in the patients\u2019 families. The influence of the variants was predicted using in silico analysis tools. Results: Nine heterozygous variants were detected as a cause of disease in the patients, three of which were novel variants, including c.284C&gt;G, p.Pro95Arg in the MYL2 gene, c.2356A&gt;G, p.Thr786Ala in the MYH7 gene, and c.1223T&gt;A, p.Leu408Gln in the DES gene. Two other variants were pathogenic variants (c.602T&gt;C, p.Ile201Thr in the MYH7 gene and c.1391G&gt;C, p.Gly464Ala in the PTPN11 gene), and four were variants of uncertain significance in the ACTA2, ANK2, MYOZ2, and PRKAG2 genes. The results of the in silico prediction software showed that the identified variants were pathogenic and responsible for the patients\u2019 DCM. Conclusions: Our results contribute to the understanding of cardiomyopathy pathogenesis and provide a basis for diagnosis, treatment, prevention, and genetic counseling.<\/jats:p>","DOI":"10.3390\/diagnostics14232709","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T09:00:10Z","timestamp":1733130010000},"page":"2709","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy"],"prefix":"10.3390","volume":"14","author":[{"given":"Dac Dai","family":"Tran","sequence":"first","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Thi Kim","family":"Lien","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4624-5567","authenticated-orcid":false,"given":"Nguyen Van","family":"Tung","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"},{"name":"Faculty of Biotechnology, Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Cong","family":"Huu","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phan Thao","family":"Nguyen","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Do Anh","family":"Tien","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doan Thi Hoai","family":"Thu","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bui Quang","family":"Huy","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tran Thi Kim","family":"Oanh","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Thi Phuong","family":"Lien","sequence":"additional","affiliation":[{"name":"E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Thanh","family":"Hien","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Ngoc","family":"Lan","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"},{"name":"Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Str., Dong Da, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le Tat","family":"Thanh","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Minh","family":"Duc","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"},{"name":"National Research Center for Medicinal Plant Germplasm & Breeding, National Institute of Medicinal Materials, Thanh Tri, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6284-5813","authenticated-orcid":false,"given":"Nguyen Huy","family":"Hoang","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet Str., Cau Giay, Hanoi 100000, Vietnam"},{"name":"Faculty of Biotechnology, Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Cau Giay, Hanoi 100000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Contemporary definitions and classification of the cardiomyopathies: An American heart association scientific statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention","volume":"113","author":"Maron","year":"2006","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: The complexity of a diverse genetic 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