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 genetic testing in HCM relevant to current practice. With technological advancements in sequencing technique and increasing availability of genetic testing in cardiology practice, a grasp of foundational knowledge on inherited cardiovascular conditions such as HCM, various sequencing techniques, interpretation of genetic testing results as well as counselling techniques become imminent to modern practice of personalized medicine.
Derek Pok Him Lee, Review on Molecular Genetic Basis of Hypertrophic Cardiomyopathy Journal of the Hong Kong College of Cardiology 2023;30(6) https://doi.org/10.55503/2790-6744.1517
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