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Archives of Disease in Childhood - Education and Practice 2008;93:128
Copyright © 2008 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.

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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), {alpha} tropomyosin (TPM1), cardiac actin (ACTC) and titin (TTN). Gene mutations known to cause ventricular hypertrophy in childhood include those for the {gamma} 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) . . . [Full text of this article]


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