title: Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers.
abstract: Idiopathic dilated cardiomyopathy has become one of the most prevalent inherited cardiomyopathies over the past decades. Genetic screening of first-degree relatives has revealed that 30-50% of the cases have a familial origin. Similar to other heart diseases, familial dilated cardiomyopathy is characterized by a high genetic heterogeneity that complicates family studies. Cli'nical screening, 12-lead electrocardiogram and transthoracic echocardiogram are recommended for patients and first-degree family members. Magnetic resonance also needs to be considered. Genetic technologies have become fundamental for the clinical management of this disease. New generation sequencing methods have made genetic testing feasible for extensive panels of genes related to the disease. Recently, new imaging modalities such as speckle-tracking, strain and strain rate or magnetic resonance, and circulating biomarkers such as non-coding RNAs, have emerged as potential strategies to help cardiologists in their clinical practice. Imaging, genetic and blood-based techniques should be considered together in the evaluation and testing of familial dilated cardiomyopathy. Here, we discuss the current procedures and novel approaches for the clinical management of familial dilated cardiomyopathy.
authors.affiliation: Cardiovascular Research Center, CSIC-ICCC, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
authors.forename: D
authors.initials: D
authors.lastname: de Gonzalo-Calvo
authors.affiliation: Hospital Universitario de la Cruz Roja, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Quezada
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Medical Science Department, School of Medicine, Girona, Spain.
authors.forename: O
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Perez-Serra
authors.affiliation: Cardiothoracic Imaging Section, Hospital Cruz Roja, Hospital San Juan de Dios. Ressalta, Health Time Group, Córdoba, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Broncano
authors.affiliation: Hospital Universitario de la Cruz Roja, Madrid, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Ayala
authors.affiliation: Hospital Universitario de la Cruz Roja, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Ramos
authors.affiliation: Cardiovascular Research Center, CSIC-ICCC, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
authors.forename: V
authors.initials: V
authors.lastname: Llorente-Cortes
authors.affiliation: Cardiology Department, Puerto Real Universitary Hospital, Cádiz, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Blasco-Turrión
authors.affiliation: Cardiology Department, Puerto Real Universitary Hospital, Cádiz, Spain.
authors.forename: F J
authors.initials: FJ
authors.lastname: Morales
authors.affiliation: Cardiology Department, Puerto Real Universitary Hospital, Cádiz, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Gonzalez
authors.affiliation: Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Medical Science Department, School of Medicine, Girona, Spain; Cardiology Department, Hospital Josep Trueta, Girona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Brugada
authors.affiliation: Medicine Department, School of Medicine, University of Cadiz, Cádiz, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Mangas
authors.affiliation: Medicine Department, School of Medicine, University of Cadiz, Cádiz, Spain. Electronic address: rocio.toro@uca.es.
authors.forename: R
authors.initials: R
authors.lastname: Toro
mesh_terms: D015415:Biomarkers / Q000097:blood; D002311:Cardiomyopathy, Dilated / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D003952:Diagnostic Imaging; D005820:Genetic Testing; D006801:Humans
chemical_list: D015415:Biomarkers
keywords: Biomarkers; Echocardiography; Familial dilated cardiomyopathy; Genetics; Magnetic resonance; Non-coding RNAs