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Review On Molecular Genetic Basis Of Hypertrophic Cardiomyopathy, Derek Pok Him Lee

Journal of the Hong Kong College of Cardiology

Hypertrophic cardiomyopathy (HCM) is one of the most common types of inherited cardiomyopathy with a wide range of clinical manifestations ranging from subtle myocardial hypertrophy to debilitating heart failure, cardiac arrhythmias, and sudden cardiac death. We reviewed the literature on the latest knowledge regarding the pathophysiology and molecular genetic basis of HCM. This will include laboratory studies on animal models and human pluripotent stem-cell derived cardiomyocytes and the theory of proximal mechanisms involving calcium handling and energy expenditure underlying HCM. The current review will also illustrate the pathogenicity of various associated genetic variants, genotype-phenotype correlation and the optimal approach to …