Hypertrophic cardiomyopathy is a multigenetic cardiac disease with autosomal dominant pattern of inheritance and
incomplete penetrance, with the exclusion of those cases caused by mutations in the mitochondrial genome. The
disease is usually caused by mutations in several sarcomeric contractile protein genes. Mutations have been found in
four genes that encode components of the thick filament: β myosin heavy chain (5), essential myosin light chains (6),
regulatory myosin light chains (6), and cardiac myosin binding protein -C (7), (8); in five genes that encode thin filament
proteins: cardiac actin (9), cardiac troponin T (10), cardiac troponin C (11), cardiac troponin I (12), and α-tropomyosin
(10); and in the sarcomeric cytoskeletal protein titin (13). In addition to mutations in contractile sarcomeric
proteins, mutations in other genes encoding for non-sarcomeric proteins also have been identified in patients
with-non pure form of hypertrophic cardiomyopathy. As a complex cardiac disease, hypertrophic cardiomyopathy has
unique pathophysiological characteristics and a various morphological, functional, and clinical features.
hypertrophic cardiomyopathy, MYH7 gene, MYBPC3 gene, TNNT2 gene.