title: Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome.
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.
authors.affiliation: 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. wbobk@mp.pl
authors.forename: Waldemar
authors.initials: W
authors.lastname: Bobkowski
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Sobieszczańska
authors.forename: Anna
authors.initials: A
authors.lastname: Turska-Kmieć
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Nowak
authors.forename: Józef
authors.initials: J
authors.lastname: Jagielski
authors.forename: Marzena
authors.initials: M
authors.lastname: Gonerska
authors.forename: Arleta
authors.initials: A
authors.lastname: Lebioda
authors.forename: Aldona
authors.initials: A
authors.lastname: Siwińska
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D004562:Electrocardiography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains