Letters to the editor
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy
| The first 150 words of the full text of this article appear below. |
EDITOR
Familial hypertrophic
cardiomyopathy (FHC) is a prevalent dominantly inherited disease
characterised by unexplained hypertrophy of the heart muscle. The
clinical manifestations are heterogeneous and the disease is a leading
cause of sudden cardiac death among young, otherwise healthy
people.1 More than 120 different mutations have been
reported in the following eight genes encoding sarcomeric polypeptides
given in parentheses: TNNT2 (troponin T),
MYL3 (essential myosin light chain),
MYH7 (
myosin heavy chain),
MYBPC3 (myosin binding protein C),
MYL2 (regulatory myosin light chain),
TPM1 (
tropomyosin),
ACTC ( cardiac actin), and
TNNI3 (troponin I).2 3
Furthermore, a disease locus on chromosome 7 has been linked to FHC,
but the gene has not yet been identified.4 Additional
disease genes probably remain to be discovered since two recent studies
found that it was only possible to genotype 50-60% of the FHC
population by mutation analyses of seven disease
genes.5 6 In order to optimise risk
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This article has been cited by other articles:
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Jongbloed, R. J., Marcelis, C. L., Doevendans, P. A., Schmeitz-Mulkens, J. M., Van Dockum, W. G., Geraedts, J. P., Smeets, H. J.
(2003). Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy. J Am Coll Cardiol
41: 981-986
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