title: GENETIC CAUSES OF DILATED CARDIOMYOPATHY.
abstract: Dilated cardiomyopathy is a disease of the myocardium characterized by left ventricular dilatation and/or dysfunction, affecting both adult and pediatric populations. Almost half of cases are genetically determined with an autosomal pattern of inheritance. Up to 40 genes have been identified affecting proteins of a wide variety of cellular structures such as the sarcomere, the nuclear envelope, the cytoskeleton, the sarcolemma and the intercellular junction. Novel gene mutations have been recently identified thanks to advances in next-generation sequencing technologies. Genetic screening is an essential tool for early diagnosis, risk assessment, prognostic stratification and, possibly, adoption of primary preventive measures in affected patients and their asymptomatic relatives. The purpose of this article is to review the genetic basis of DCM, the known genotype-phenotype correlations, the role of current genetic sequencing techniques in the discovery of novel pathogenic gene mutations and new therapeutic perspectives.
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Aurora, Colorado.
authors.forename: Luisa
authors.initials: L
authors.lastname: Mestroni
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Aurora, Colorado ; Cardiovascular Department "Ospedali Riuniti", Hospital and University of Trieste, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Brun
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Aurora, Colorado ; Cardiovascular Department "Ospedali Riuniti", Hospital and University of Trieste, Italy.
authors.forename: Anita
authors.initials: A
authors.lastname: Spezzacatene
authors.affiliation: Cardiovascular Department "Ospedali Riuniti", Hospital and University of Trieste, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Sinagra
authors.affiliation: Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Aurora, Colorado.
authors.forename: Matthew Rg
authors.initials: MR
authors.lastname: Taylor
keywords: Dilated cardiomyopathy; gene; heart failure; pediatrics; prognosis; screening