Portuguese study of familial dilated cardiomyopathy: The FATIMA study [Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA]

• Type: Article in International Scientific Journal
• Date: 2008

Authors

Martins, E (Author) FMUP; Silva Cardoso, J (Author) FMUP; Bicho, M (Author) Other; Bourbon, M (Author) Other; Ceia, F (Author) Other; Rebocho, MJ (Author) Other; Moura, B (Author) Other; Fonseca, C (Author) Other; Correia, MJ (Author) Other; Brito, D (Author) Other; Perdigao, C (Author) Other; Madeira, H (Author) Other; Abreu-Lima C (Author) FMUP

Journal

Title: Boletim da Sociedade Portuguesa de Cardiologia

Vol. 27 No. 9

Pages: 1029-1042

ISSN: 0304-4750

Publisher: Sociedade Portuguesa De Cardiologia

Indexing

ISI Web of Knowledge

Scopus - 11 Citations

Other information

Authenticus ID: P-007-P5G

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific