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The Genetic Landscape of Hypertrophic Cardiomyopathy (with Echocardiography Cases)

Hypertrophic Cardiomyopathy: Unmasking the Molecular Mysteries Hypertrophic cardiomyopathy (HCM) stands as one of the most prevalent genetic cardiovascular disorders, characterized by the abnormal thickening of the heart muscle, especially the left ventricle. Despite being recognized for over a century, the intricate genetic architecture underlying HCM has remained a subject of intense scientific inquiry. Recent advancements in genomics have paved the way for a deeper understanding of the molecular mechanisms driving this condition, offering hope for more precise diagnostics and targeted therapies. Watch these Echocardiography Videos of HCM, and its variant known as Yamaguchi syndrome:     The Genetic Code HCM exhibits a complex inheritance pattern, with the majority of cases arising from mutations in genes encoding sarcomeric proteins, the fundamental components of cardiac muscle contraction. Genes such as MYH7, MYBPC3, TNNT2, TNNI3, and others have been implicated, with muta...