title: [High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C].
abstract: Hypertrophic cardiomyopathy is an autosomal dominant inherited disease characterized by ventricular hypertrophy and myofibril disarray. Mutations responsible for hypertrophic cardiomyopathy have been identified in 11 genes that encode for cardiac sarcomere proteins. Traditionally, hypertrophic cardiomyopathy due to mutation of the myosin-binding protein C gene (MYBPC3) has been thought to follow a benign course. We report a family with several members affected by hypertrophic cardiomyopathy in which there was a high incidence of sudden death. Disease was presumably caused by the substitution of cytosine by guanine at nucleotide 269 of MYBPC3 mRNA. This mutation, which has not previously been described, modifies codon 79, which encodes for the incorporation of a tyrosine, and gives rise to a stop codon. The mutation described here appears to confer a higher risk than that previously associated with hypertrophic cardiomyopathy due to MYBPC3 gene mutation.
authors: Servicio de Cardiología, Hospital Universitario Puerta de Hierro, Madrid, Spain. pablogpavia@yahoo.es
authors: Pablo
authors: P
authors: García-Pavía
authors: Javier
authors: J
authors: Segovia
authors: Jesús
authors: J
authors: Molano
authors: Roberto
authors: R
authors: Mora
authors: Frederic
authors: F
authors: Kontny
authors: Knut
authors: K
authors: Erik Berge
authors: Trond P
authors: TP
authors: Leren
authors: Luis
authors: L
authors: Alonso-Pulpón
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012307:Risk Factors; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C