{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(23)"],"submitter":["Tran DD"],"pubmed_abstract":["<b>Background</b>: 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, 20-50% 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. <b>Methods</b>: 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 cardiomyopa"],"journal":["Diagnostics (Basel, Switzerland)"],"pagination":["2709"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11640685"],"repository":["biostudies-literature"],"pubmed_title":["Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy."],"pmcid":["PMC11640685"],"pubmed_authors":["Oanh TTK","Tung NV","Tien DA","Huy BQ","Tran DD","Duc NM","Hoang NH","Huu NC","Lien NTP","Thanh LT","Hien NT","Lien NTK","Nguyen PT","Thu DTH","Lan NN"],"additional_accession":[]},"is_claimable":false,"name":"Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy.","description":"<b>Background</b>: 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, 20-50% 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. <b>Methods</b>: 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 cardiomyopa","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-05-26T20:09:55.433Z","creation":"2025-04-06T22:30:07.658Z"},"accession":"S-EPMC11640685","cross_references":{"pubmed":["39682617"],"doi":["10.3390/diagnostics14232709"]}}