title: Familial inflammatory dilated cardiomyopathy.
abstract: BACKGROUND
  Systematic family screening has recently identified dilated cardiomyopathy as an inherited disorder in up to 30% of cases. Mutations in genes encoding proteins responsible for myocardial architecture have been identified, but additional pathophysiological mechanisms including inflammatory reactions have been proposed.
  
  
  OBJECTIVE
  Identification and characterization of familial DCM, where at least one affected family member fulfils the criteria for inflammatory DCM may lead to a better understanding of the aetiology and pathogenesis of (inflammatory) DCM.
  
  
  RESULTS
  Ten families were examined. In six families, clinical characteristics and mode of inheritance were compatible with pure fDCM, fDCM with conduction defect and autosomal recessive fDCM. In four families, (auto-)immune features were diagnosed in affected and non-affected family members.
  
  
  CONCLUSIONS
  Familial DCM with an inflammatory component was identified as a specific subgroup of familial DCM. In most cases, the inflammatory process seems to modify, i.e. aggravate, the "classic, cytoskeletopathic" familial DCM, but in some, especially when taking clinical and genetic aspects into account, inflammatory (auto-)immune features can be addressed as the leading pathogenetic principle. Further elucidation of these families may provide a better insight into pathophysiologic processes and may aid in the development of specific therapeutic strategies.
authors.affiliation: Philipps-University Hospital, Department of Internal Medicine and Cardiology, Baldingerstrasse, 35033 Marburg, Germany. portig@med.uni-marburg.de
authors.forename: Irene
authors.initials: I
authors.lastname: Portig
authors.forename: Andreas
authors.initials: A
authors.lastname: Wilke
authors.forename: Matthias
authors.initials: M
authors.lastname: Freyland
authors.forename: Markus-Joachim
authors.initials: MJ
authors.lastname: Wolf
authors.forename: Anette
authors.initials: A
authors.lastname: Richter
authors.forename: Volker
authors.initials: V
authors.lastname: Ruppert
authors.forename: Sabine
authors.initials: S
authors.lastname: Pankuweit
authors.forename: Bernhard
authors.initials: B
authors.lastname: Maisch
mesh_terms: D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000145:classification / Q000473:pathology*; D004198:Disease Susceptibility; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D010375:Pedigree