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2007 | 48 | 2 | 185-188
Article title

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome

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EN
Abstracts
EN
Familial hypertrophic cardiomyopathy (HCM) displays autosomal dominant inheritance with incomplete penetration of defective genes. Data concerning the familial occurrence of ventricular preexcitation, i.e. Wolff-Parkinson-White (WPW) syndrome, also indicate autosomal dominant inheritance. In the literature, only a gene mutation on chromosome 7q3 has been described in familial HCM coexisting with WPW syndrome to date. The present paper describes the case of a 7-year-old boy with HCM and coexisting WPW syndrome. On his chromosome 14, molecular diagnostics revealed a C 9123 mutation (arginine changed into cysteine in position 453) in exon 14 in a copy of the gene for beta-myosin heavy chain (MYH7). It is the first known case of mutation of the MYH7 gene in a child with both HCM and WPW. Since no linkage between MYH7 mutation and HCM with WPW syndrome has been reported to date, we cannot conclude whether the observed mutation is a common cause for both diseases, or this patient presents an incidental co-occurrence of HCM (caused by MYH7 mutation) and WPW syndrome.
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Year
Volume
48
Issue
2
Pages
185-188
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author
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author
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References
Document Type
ARTICLE
Publication order reference
W. Bobkowski, Department of Paediatric Cardiology, Poznan University of Medical Sciences, Szpitalna 27/33, 60?572 Poznan, Poland
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YADDA identifier
bwmeta1.element.element-from-psjc-c48afff7-9cf7-3f59-ba49-27d346de2be8
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