title: The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
abstract: BACKGROUND
  The R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans.
  
  
  OBJECTIVE
  To describe the phenotype associated with the R820W mutation identified in a human family.
  
  
  METHODS
  The R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular non-compaction (LVNC). Clinical and genetic studies of the R820W mutation were performed in her family.
  
  
  RESULTS
  The index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years.
  
  
  CONCLUSIONS
  The R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.
authors.affiliation: Cardiology Department, Hospital Son Llatzer, Palma de Mallorca, Spain. Electronic address: tripoll@hsll.es.
authors.forename: Tomás
authors.initials: T
authors.lastname: Ripoll Vera
authors.affiliation: Instituto de Investigación Biomédica de A Coruña, Spain.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Monserrat Iglesias
authors.affiliation: Instituto de Investigación Biomédica de A Coruña, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Hermida Prieto
authors.affiliation: Instituto de Investigación Biomédica de A Coruña, Spain.
authors.forename: Martin
authors.initials: M
authors.lastname: Ortiz
authors.affiliation: Instituto de Investigación Biomédica de A Coruña, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Rodriguez Garcia
authors.affiliation: Genetics Unit, Hospital Son Dureta, Palma de Mallorca, Spain.
authors.forename: Nancy
authors.initials: N
authors.lastname: Govea Callizo
authors.affiliation: Cardiology Department, Hospital de Torrecárdenas, Almería, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Gómez Navarro
authors.affiliation: Genetics Unit, Hospital Son Dureta, Palma de Mallorca, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Rosell Andreo
authors.affiliation: Cardiology Department, Hospital Son Llatzer, Palma de Mallorca, Spain.
authors.forename: José María
authors.initials: JM
authors.lastname: Gámez Martínez
authors.affiliation: Cardiology Department, Clínica Palmaplanas, Palma de Mallorca, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pons Lladó
authors.affiliation: Cardiology Department, Hospital Son Llatzer, Palma de Mallorca, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Cremer Luengos
authors.affiliation: Cardiology Department, Hospital Son Llatzer, Palma de Mallorca, Spain.
authors.forename: Joan
authors.initials: J
authors.lastname: Torres Marqués
mesh_terms: D000328:Adult; D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002415:Cats; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C