Portuguese study of familial dilated cardiomyopathy: the FATIMA study.

Journal article

Elisabete Martins, J. Silva-Cardoso, M. Bicho, M. Bourbon, F. Ceia, M. Rebocho, B. Moura, C. Fonseca, M. Correia, D. Brito, C. Perdigão, H. Madeira, C. Abreu-Lima
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, vol. 27(9), 2008 Sep, pp. 1029-1042

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APA Click to copy
Martins, E., Silva-Cardoso, J., Bicho, M., Bourbon, M., Ceia, F., Rebocho, M., … Abreu-Lima, C. (2008). Portuguese study of familial dilated cardiomyopathy: the FATIMA study. Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 27(9), 1029–1042.

Chicago/Turabian Click to copy
Martins, Elisabete, J. Silva-Cardoso, M. Bicho, M. Bourbon, F. Ceia, M. Rebocho, B. Moura, et al. “Portuguese Study of Familial Dilated Cardiomyopathy: the FATIMA Study.” Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 27, no. 9 (September 2008): 1029–1042.

MLA Click to copy
Martins, Elisabete, et al. “Portuguese Study of Familial Dilated Cardiomyopathy: the FATIMA Study.” Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, vol. 27, no. 9, Sept. 2008, pp. 1029–42.

BibTeX Click to copy

@article{elisabete2008a,
  title = {Portuguese study of familial dilated cardiomyopathy: the FATIMA study.},
  year = {2008},
  month = sep,
  issue = {9},
  journal = {Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology},
  pages = {1029-1042},
  volume = {27},
  author = {Martins, Elisabete and Silva-Cardoso, J. and Bicho, M. and Bourbon, M. and Ceia, F. and Rebocho, M. and Moura, B. and Fonseca, C. and Correia, M. and Brito, D. and Perdigão, C. and Madeira, H. and Abreu-Lima, C.},
  month_numeric = {9}
}

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.

Portuguese study of familial dilated cardiomyopathy: the FATIMA study.

Journal article

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Abstract

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