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

Fingerprint

Dilated Cardiomyopathy
Mutation
Multicenter Studies
Penetrance
Nuclear Envelope
Nuclear Proteins
Sudden Death
Cardiomyopathies
Genes
Signs and Symptoms
Cardiac Arrhythmias
Dilatation
Epidemiology
Heart Failure
Familial dilated cardiomyopathy
Population

Keywords

  • Dilated cardiomyopathy
  • Familial
  • Genetics

Cite this

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.
Martins, Elisabete ; Silva-Cardoso, José ; Bicho, Manuel ; Bourbon, Mafalda ; Ceia, Fatima ; Rebocho, M. José ; Moura, Brenda ; Fonseca, Cândida ; Correia, Maria José ; Brito, Dulce ; Perdigão, Carlos ; Madeira, Hugo ; Abreu-Lima, Cassiano. / Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA. In: Revista Portuguesa de Cardiologia. 2008 ; Vol. 27, No. 9. pp. 1029-1042.
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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.",
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Martins, E, Silva-Cardoso, J, Bicho, M, Bourbon, M, Ceia, F, Rebocho, MJ, Moura, B, Fonseca, C, Correia, MJ, Brito, D, Perdigão, C, Madeira, H & Abreu-Lima, C 2008, 'Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA', Revista Portuguesa de Cardiologia, vol. 27, no. 9, pp. 1029-1042.

Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA. / Martins, Elisabete; Silva-Cardoso, José; Bicho, Manuel; Bourbon, Mafalda; Ceia, Fatima; Rebocho, M. José; Moura, Brenda; Fonseca, Cândida; Correia, Maria José; Brito, Dulce; Perdigão, Carlos; Madeira, Hugo; Abreu-Lima, Cassiano.

In: Revista Portuguesa de Cardiologia, Vol. 27, No. 9, 01.09.2008, p. 1029-1042.

Research output: Contribution to journalArticle

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T1 - Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA

AU - Martins, Elisabete

AU - Silva-Cardoso, José

AU - Bicho, Manuel

AU - Bourbon, Mafalda

AU - Ceia, Fatima

AU - Rebocho, M. José

AU - Moura, Brenda

AU - Fonseca, Cândida

AU - Correia, Maria José

AU - Brito, Dulce

AU - Perdigão, Carlos

AU - Madeira, Hugo

AU - Abreu-Lima, Cassiano

PY - 2008/9/1

Y1 - 2008/9/1

N2 - 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.

AB - 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.

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SN - 0870-2551

IS - 9

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Martins E, Silva-Cardoso J, Bicho M, Bourbon M, Ceia F, Rebocho MJ et al. Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA. Revista Portuguesa de Cardiologia. 2008 Sep 1;27(9):1029-1042.