title: Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
abstract: OBJECTIVE
  The purpose of this research was to determine the phenotypic spectrum associated with phospholamban gene (PLN) mutations.
  
  
  BACKGROUND
  Inheritance contributes to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have been associated with dilated cardiomyopathy characterized by early onset and the presence of lethal ventricular arrhythmias.
  
  
  METHODS
  We screened a cohort of 260 unrelated dilated cardiomyopathy patients from a tertiary care referral center for mutations in the PLN gene.
  
  
  RESULTS
  Family history of cardiomyopathy was present in approximately one-half the individuals in this cohort. We identified 1 family with a deletion of arginine 14 in the PLN. Interestingly, unlike other individuals reported with the identical PLN mutation, these individuals were not diagnosed with dilated cardiomyopathy until their seventh decade when they were only mildly symptomatic with congestive heart failure.
  
  
  CONCLUSIONS
  The identical PLN mutation can be associated with both mild and severe forms of dilated cardiomyopathy. Additionally, PLN mutations should be considered in late onset cardiomyopathy. (Genetics of Cardiovascular and Neuromuscular Disease; http://www.clinicaltrials.gov/ct/show/NCT00138931?order=1; NCT00138931)
authors.affiliation: Department to Medicine, Section of Cardiology, The University of Chicago, Chicago, Illinois, USA.
authors.forename: Megan M
authors.initials: MM
authors.lastname: DeWitt
authors.forename: Heather M
authors.initials: HM
authors.lastname: MacLeod
authors.forename: Betty
authors.initials: B
authors.lastname: Soliven
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: McNally
mesh_terms: D017668:Age of Onset; D000368:Aged; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D000099211:Phospholamban
chemical_list: D002135:Calcium-Binding Proteins; D000099211:Phospholamban