title: A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
abstract: Genetic studies can play a key role in the comprehensive evaluation of familiar hypertrophic cardiomyopathy and in the development of individualized medicine. Although only a few cases have been described, there exists a group of patients with complex genotypes that are associated with severe disease manifestations and a high risk of sudden death. We describe a family in which some members experienced the early development of systolic and diastolic dysfunction while others experienced sudden death at a young age. We identified a novel homozygous mutation (IVS6+5G>A) in the myosin-binding protein-C gene that explained the phenotype of affected individuals and that enabled us to estimate the risk in other family members and to offer genetic counseling.
authors.affiliation: Servicio de Cardiología, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain.
authors.forename: Martín F
authors.initials: MF
authors.lastname: Ortiz
authors.forename: María Isabel
authors.initials: MI
authors.lastname: Rodríguez-García
authors.forename: Manuel
authors.initials: M
authors.lastname: Hermida-Prieto
authors.forename: Xusto
authors.initials: X
authors.lastname: Fernández
authors.forename: Elena
authors.initials: E
authors.lastname: Veira
authors.forename: Roberto
authors.initials: R
authors.lastname: Barriales-Villa
authors.forename: Alfonso
authors.initials: A
authors.lastname: Castro-Beiras
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Monserrat
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000453:epidemiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012306:Risk; D014463:Ultrasonography; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C