Portuguese study of familial dilated cardiomyopathy: the FATIMA study.
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.
Martins
Elisabete
E
Serviço de Cardiologia-Hospital de São João, Faculdade de Medicina do Porto, Porto, Portugal. bernardes_med@hotmail.com
Silva-Cardoso
José
J
Bicho
Manuel
M
Bourbon
Mafalda
M
Ceia
Fátima
F
Rebocho
M José
MJ
Moura
Brenda
B
Fonseca
Cândida
C
Correia
Maria José
MJ
Brito
Dulce
D
Perdigão
Carlos
C
Madeira
Hugo
H
Abreu-Lima
Cassiano
C
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D011174:Portugal