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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