JOURNAL OF
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Journal of Applied Genetics 48(2), 2007, pp. 185-188

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

Waldemar Bobkowski, Malgorzata Sobieszczanska, Anna Turska-Kmiec, Agnieszka Nowak, Jozef Jagielski, Marzena Gonerska, Arleta Lebioda, Aldona Siwinska


Abstract: 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.

Key words: arrhythmia, beta-myosin mutation, hypertrophic cardiomyopathy, MYH7 gene, sudden death, Wolff-Parkinson-White syndrome.

Correspondence: W.Bobkowski, Department of Paediatric Cardiology, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland; e-mail: wbobk@mp.pl

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