title: A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death.
abstract: BACKGROUND
  Dilated cardiomyopathy (DCM), a cardiac heterogeneous pathology characterized by left ventricular or biventricular dilatation, is a leading cause of heart failure and heart transplantation. The genetic origin of DCM remains unknown in most cases, but >50 genes have been associated with DCM. We sought to identify the genetic implication and perform a genetic analysis in a Spanish family affected by DCM and sudden cardiac death.
  
  
  RESULTS
  Clinical assessment and genetic screening were performed in the index case as well as family members. Of all relatives clinically assessed, nine patients showed clinical symptoms related to the pathology. Genetic screening identified 20 family members who carried a novel mutation in LMNA (c.871 G>A, p.E291K). Family segregation analysis indicated that all clinically affected patients carried this novel mutation. Clinical assessment of genetic carriers showed that electrical dysfunction was present previous to mechanical and structural abnormalities.
  
  
  CONCLUSIONS
  Our results report a novel pathogenic mutation associated with DCM, supporting the benefits of comprehensive genetic studies of families affected by this pathology.
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Pérez-Serra
authors.affiliation: School of Medicine, University of Cadiz, Cádiz, Spain.
authors.forename: Rocío
authors.initials: R
authors.lastname: Toro
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Department of Medical Science, School of Medicine, University of Girona, Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.affiliation: Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Spain.
authors.forename: Paola
authors.initials: P
authors.lastname: Berne
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.affiliation: School of Medicine, University of Cadiz, Cádiz, Spain.
authors.forename: Alipio
authors.initials: A
authors.lastname: Mangas
authors.affiliation: Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Department of Medical Science, School of Medicine, University of Girona, Girona, Spain; Cardiomyopathy Unit, Hospital Josep Trueta, University of Girona, Girona, Spain. Electronic address: ramon@brugada.org.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: Dilated cardiomyopathy; lamin A/C; novel mutation; sudden cardiac death