title: Genetic basis of dilated cardiomyopathy.
abstract: Dilated cardiomyopathy is a rare cardiac disease characterized by left ventricular dilatation and systolic dysfunction leading to heart failure and sudden cardiac death. Currently, despite several conditions have been reported as aetiologies of the disease, a large number of cases remain classified as idiopathic. Recent studies determine that nearly 60% of cases are inherited, therefore due to a genetic cause. Progressive technological advances in genetic analysis have identified over 60 genes associated with this entity, being TTN the main gene, so far. All these genes encode a wide variety of myocyte proteins, mainly sarcomeric and desmosomal, but physiopathologic pathways are not yet completely unraveled. We review the recent published data about genetics of familial dilated cardiomyopathy.
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Pérez-Serra
authors.affiliation: Medicine Department, School of Medicine, Cadiz, Spain.
authors.forename: Rocio
authors.initials: R
authors.lastname: Toro
authors.affiliation: Arrhythmias Unit, Sant Joan de Deu Hospital, University of Barcelona, Barcelona, Spain.
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.affiliation: Cardiovascular Research Center (CSIC-ICCC), Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
authors.forename: David
authors.initials: D
authors.lastname: de Gonzalo-Calvo
authors.affiliation: Arrhythmias Unit, Sant Joan de Deu Hospital, University of Barcelona, Barcelona, Spain.
authors.forename: Sergi
authors.initials: S
authors.lastname: Cesar
authors.affiliation: Arrhythmias Unit, Sant Joan de Deu Hospital, University of Barcelona, Barcelona, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Carro
authors.affiliation: Cardiovascular Research Center (CSIC-ICCC), Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
authors.forename: Vicenta
authors.initials: V
authors.lastname: Llorente-Cortes
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.affiliation: Arrhythmias Unit, Sant Joan de Deu Hospital, 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; Medical Science Department, 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
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002869:Chromosome Aberrations; D064211:Connectin / Q000235:genetics; D016757:Death, Sudden, Cardiac / Q000517:prevention & control*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D017354:Point Mutation
chemical_list: D064211:Connectin; C494847:LMNA protein, human; D034904:Lamin Type A; C577285:TTN protein, human
keywords: Dilated cardiomyopathy; Genetics; Sudden cardiac death