title: Diagnosis, prevalence, and screening of familial dilated cardiomyopathy.
abstract: BACKGROUND
  Dilated cardiomyopathy (DCM) is the most common cardiomyopathy and occurs often in families. As an inherited disease, understanding the significance of diagnostic procedures and genetic screening within families is of utmost importance.
  
  
  METHODS
  Genetic studies have shown that in 30-40% of familial DCM (FDC) cases a causative genetic mutation can be identified. Successful genetic analysis is highly dependent on close examination of patient and family history, and clinical guidelines exist recommending genetic testing to aid in the evaluation of family members at risk of developing FDC. Clinical genetic testing offers a resource for families to identify the etiology of their disease, and in some cases may provide clinical prognostic insight.
  
  
  CONCLUSIONS
  As an inherited disease, future FCD studies will focus on elucidating the remaining 60-70% of genetic causes in inherited cases and the pathogenic mechanisms leading to the phenotype. Specifically, a focus on regulatory regions, copy number variation, genetic and environmental modifiers and functional confirmatory investigations will be essential.
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Denver, Colorado, USA; Human Medical Genetics and Genomics Program, University of Colorado Denver, Denver, Colorado, USA.
authors.forename: Mary
authors.initials: M
authors.lastname: Sweet
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Denver, Colorado, USA.
authors.forename: Matthew R G
authors.initials: MR
authors.lastname: Taylor
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Denver, Colorado, USA.
authors.forename: Luisa
authors.initials: L
authors.lastname: Mestroni