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Genetics of hypertrophic cardiomyopathy of childhood onset
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It is unusual for hypertrophic cardiomyopathy to become manifest before the age of 14 years. The adult-onset disease is caused by mutations in any of a number of genes that encode sarcomere proteins. These include the genes for cardiac β-myosin heavy chain (MYH7), cardiac myosin-binding protein C (MYBPC3), cardiac troponin T (TNNT2), cardiac troponin 1 (TNNI3), essential myosin light chain (MYL3), regulatory myosin light chain (MYL2),
tropomyosin (TPM1), cardiac actin (ACTC) and titin (TTN). Gene mutations known to cause ventricular hypertrophy in childhood include those for the
2 regulatory subunit of ANP-activated protein kinase (PRKAG2) and lysosome-associated membrane protein 2 (LAMP2). The genetic contribution to childhood-onset disease is, however, uncertain. Now researchers in Boston and Houston (Hiroyuki Morita and colleagues. New England Journal of Medicine 2008;358:1899–908)
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