Molecular characterization of Portuguese patients with dilated cardiomyopathy.

Affiliation

Department of Medicine, Faculty of Medicine, University of Porto, Portugal; Cintesis - Center for Research in Health Technologies and Services, Portugal; Department of Cardiology, Santa Maria Maior Hospital, Portugal. Electronic address: [Email]

Abstract

Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilatation and impaired systolic function. Familial forms account for 30-50% of cases. Autosomal dominant inheritance is the predominant pattern of transmission. Causal genetic variants have been identified in several genes and molecular diagnosis has implications for genetic counseling and risk stratification.

Keywords

Dilated cardiomyopathy,Genetic variant,Miocardiopatia dilatada,Next-generation sequencing,Sequenciação massiva paralela,Variante genética,

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