Desmin-related restrictive cardiomyopathy.
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.
Silva
Christiano Pereira
CP
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil. chrispsilva@cardiol.br
Bacal
Fernando
F
Benvenuti
Luiz Alberto
LA
Bocchi
Edimar Alcides
EA
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
D003893:Desmin