Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA

Translated title of the contribution: Portuguese study of FAmilial dilaTed cardIoMyopAthy: The FATIMA study

Elisabete Martins, José Silva-Cardoso, Manuel Bicho, Mafalda Bourbon, Fatima Ceia, M. José Rebocho, Brenda Moura, Cândida Fonseca, Maria José Correia, Dulce Brito, Carlos Perdigão, Hugo Madeira, Cassiano Abreu-Lima

Research output: Contribution to journalArticle

11 Citations (Scopus)

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, DGM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias of 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.

Original languagePortuguese
Pages (from-to)1029-1042
Number of pages14
JournalRevista Portuguesa de Cardiologia
Volume27
Issue number9
Publication statusPublished - 1 Sep 2008

Keywords

  • Dilated cardiomyopathy
  • Familial
  • Genetics

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    Martins, E., Silva-Cardoso, J., Bicho, M., Bourbon, M., Ceia, F., Rebocho, M. J., ... Abreu-Lima, C. (2008). Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA. Revista Portuguesa de Cardiologia, 27(9), 1029-1042.