title: Portuguese study of familial dilated cardiomyopathy: the FATIMA study.
abstract: Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutations are identified in genes coding for cytoskeletal, sarcomeric or nuclear envelope proteins. To date, most studies aimed at molecular diagnosis of DCM have been in selected families, or in larger groups of patients, but screening for mutations in a limited number of genes. Consequently, the epidemiology of mutations in familial DCM remains unknown. There is thus a need for multicenter studies, involving screening for a wide range of mutations in several families and in cases of idiopathic DCM. The present article describes the methodology of a multicenter study, aimed at clinical and molecular characterization of familial DCM patients in the Portuguese population.
authors.affiliation: Serviço de Cardiologia-Hospital de São João, Faculdade de Medicina do Porto, Porto, Portugal. bernardes_med@hotmail.com
authors.forename: Elisabete
authors.initials: E
authors.lastname: Martins
authors.forename: José
authors.initials: J
authors.lastname: Silva-Cardoso
authors.forename: Manuel
authors.initials: M
authors.lastname: Bicho
authors.forename: Mafalda
authors.initials: M
authors.lastname: Bourbon
authors.forename: Fátima
authors.initials: F
authors.lastname: Ceia
authors.forename: M José
authors.initials: MJ
authors.lastname: Rebocho
authors.forename: Brenda
authors.initials: B
authors.lastname: Moura
authors.forename: Cândida
authors.initials: C
authors.lastname: Fonseca
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Correia
authors.forename: Dulce
authors.initials: D
authors.lastname: Brito
authors.forename: Carlos
authors.initials: C
authors.lastname: Perdigão
authors.forename: Hugo
authors.initials: H
authors.lastname: Madeira
authors.forename: Cassiano
authors.initials: C
authors.lastname: Abreu-Lima
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D011174:Portugal