Background: Hypertrophic cardiomyopathy (HCM) is associated primarily with pathogenic mutations in sarcomeric genes. The aim of this study was to identify the prevalence and distribution of disease-causing mutations in HCM-associated genes and the genotypephenotype relationship in Vietnamese patients with HCM. Methods and Results: Genetic testing was performed by next-generation sequencing in 104 unrelated probands for 23 HCMrelated genes and in 57 family members for the mutation(s) detected. Clinical manifestations were recorded for genotype-phenotype correlation analysis. Mutation detection rate was 43.4%. Mutations in MYBPC3 accounted for 38.6%, followed by TPM1 (20.5%), MYH7 (18.2%), TNNT2 (9.1%), TNNI3 (4.5%) and MYL2 (2.3%). A mutation in GLA associated with Fabry disease was found in 1 patient. A mutation in TPM1 (c.842T>C, p.Met281Thr) was identified in 8 unrelated probands (18.2%) and 8 family members from 5 probands. Genotype-positive status related to MYH7, TPM1, and TNNT2 mutations was associated with severe clinical manifestations. MYH7-positive patients displayed worse prognosis compared with MYBPC3-positive patients. Interestingly, TPM1 c.842T>C mutation was associated with high penetrance and severe HCM phenotype. Conclusions: We report for the first time the prevalence of HCM-related gene variants in Vietnamese patients with HCM. MYH7, TPM1, and TNNT2 mutations were associated with unfavorable prognosis.
were scarce. With next-generation sequencing, multiple genes can be analyzed simultaneously, making genetic testing a powerful tool for disease management as for hypertrophic cardiomyopathy (HCM). However, the clinical utility of DCM genetic testing still needs to be established. Furthermore, a focused panel comprising the most prevalent DCM-associated genes in the Vietnamese population would enable a cost-effective DCM genetic testing program in Vietnam.Our study aimed to determine the prevalence of rare variants from 58 DCM-related genes in 230 well-phenotyped DCM Vietnamese patients, and to analyze genotype-D ilated cardiomyopathy (DCM) was characterized by left or biventricular dilatation and systolic dysfunction in the absence of secondary causes such as coronary artery disease. 1 With a prevalence of 1 in 250 in the population, DCM is a common cause of heart failure and the leading indication for cardiac transplantation. 2 DCM can be attributed to genetic and non-genetic causes, with approximately 40% of DCM cases having a genetic cause. 3 Rare variants in multiple genes encoding cardiac sarcomeric, cytoskeletal, desmosomal, nuclear lamina, mitochondrial and ion flux-handling proteins have been linked to disease manifestations. 4 The relationship between mutations in DCM-related genes and abnormalities of cardiac morphology and functions were investigated mostly in Western populations; data from Asian countries
We reported a patient presenting with tuberous sclerosis complex. Next-generation sequencing showing a frameshift mutation in TSC2 gene confirmed the clinical diagnosis. The study contributed to raise medical awareness on tuberous sclerosis complex in Vietnam that could lead to future approval of its diagnostics and treatment.
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