title: Desmin-related restrictive cardiomyopathy.
abstract: Restrictive cardiomyopathies may have different etiologies, among which we can point out storage diseases by accumulation of different materials such as desmin. Desminopathies are uncommon diseases that progress with conduction abnormalities, peripheral myopathies, and ventricular dysfunction. The present report describes a patient with complete atrioventricular block as the initial event; he later developed skeletal muscle alterations and heart failure. The investigation led to the diagnosis of restrictive cardiomyopathy due to desmin accumulation.
authors.affiliation: Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil. chrispsilva@cardiol.br
authors.forename: Christiano Pereira
authors.initials: CP
authors.lastname: Silva
authors.forename: Fernando
authors.initials: F
authors.lastname: Bacal
authors.forename: Luiz Alberto
authors.initials: LA
authors.lastname: Benvenuti
authors.forename: Edimar Alcides
authors.initials: EA
authors.lastname: Bocchi
mesh_terms: D000328:Adult; D001706:Biopsy; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000209:etiology; D003893:Desmin / Q000032:analysis*; D006327:Heart Block / Q000175:diagnosis; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology
chemical_list: D003893:Desmin