Advances in Genetic and Molecular Mechanisms of Familial Hypertrophic Cardiomyopathy
Abstract
Familial Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disorder primarily caused by mutations in sarcomeric protein genes. This review explores the latest advancements in the genetic and molecular mechanisms underlying HCM, emphasizing key mutations in MYH7, MYBPC3, and other associated genes. We discuss the role of altered contractile proteins, calcium signaling dysregulation, and energy metabolism deficits in disease pathogenesis. Additionally, novel genomic techniques, such as whole-exome sequencing and CRISPR-based gene editing, are examined for their potential in precision medicine. The paper concludes with future perspectives on gene-targeted therapies and molecular interventions.
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