Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy

: 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. : 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' families. The influence of the variants was predicted using in silico analysis tools. : Nine heterozygous variants were detected as a cause of disease in the patients, three of which were novel variants, including c.284C>G, p.Pro95Arg in the gene, c.2356A>G, p.Thr786Ala in the gene, and c.1223T>A, p.Leu408Gln in the gene. Two other variants were pathogenic variants (c.602T>C, p.Ile201Thr in the gene and c.1391G>C, p.Gly464Ala in the gene), and four were variants of uncertain significance in the , , , and genes. The results of the in silico prediction software showed that the identified variants were pathogenic and responsible for the patients' DCM. : Our results contribute to the understanding of cardiomyopathy pathogenesis and provide a basis for diagnosis, treatment, prevention, and genetic counseling.