Bobkowski Waldemar, Sobieszczańska Małgorzata, Turska-Kmieć Anna, Nowak Agnieszka, Jagielski Józef, Gonerska Marzena, Lebioda Arleta, Siwińska Aldona
Department of Paediatric Cardiology, University of Medical Sciences, Szpitalna 27/33, 60-572 Poznań, and Department of Cardiology, Children's Memorial Health Institute, Warszawa, Poland.
J Appl Genet. 2007;48(2):185-8. doi: 10.1007/BF03194677.
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.
