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

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Bobkowski W., Sobieszczanska M., Turska-Kmiec A., Nowak A., Jagielski J., Gonerska M., Lebioda A., Siwinska A.

Journal of Applied Genetics

2007

vol. 48

issue 2

185-188

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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1 Journal of Applied Genetics

1 2007

1 Bobkowski W.

1 Gonerska M.

1 Jagielski J.

1 Lebioda A.

1 Nowak A.

1 Siwinska A.

1 Sobieszczanska M.

1 Turska-Kmiec A.

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