Identification of genetic variants in two Vietnamese patients with hypertrophic cardiomyopathy by whole exome sequencing

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease and a major cause of sudden death. It is also involved in increasing morbidity and mortality of various cardiovascular diseases. Genetic factors have been found to be important in determining the phenotypic manifestation of cardiac hypertrophy. However, only 50–60% of HCM patients have been identified as having pathogenic variants in known genes, suggesting that more studies are needed to find more disease genes. In this study, whole exome sequencing was performed on two patients from two unrelated families who were diagnosed with HCM to screen the associated mutations.