Assuntos
Inibidores da Angiogênese/uso terapêutico , Aptâmeros de Nucleotídeos/uso terapêutico , Isquemia/fisiopatologia , Edema Macular/fisiopatologia , Artéria Retiniana/fisiologia , Adulto , Idoso , Velocidade do Fluxo Sanguíneo , Retinopatia Diabética/tratamento farmacológico , Retinopatia Diabética/fisiopatologia , Feminino , Humanos , Injeções Intraoculares , Isquemia/tratamento farmacológico , Fluxometria por Laser-Doppler , Edema Macular/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Oclusão da Veia Retiniana/tratamento farmacológico , Oclusão da Veia Retiniana/fisiopatologia , Ultrassonografia Doppler em Cores , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidoresRESUMO
X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. Here we report long-term follow-up of the second family (XLCM-2), for which a DMD mutation was never found. Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease. The broad phenotype in this family included dilated and hypertrophic cardiomyopathy, cardiac pre-excitation, skeletal myopathy with high serum creatinine kinase, cognitive impairement (in males), and and a pigmentary retinopathy in affected females. Cardiac biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. We conclude that XLCM may be the presenting sign of Danon disease and, in the presence of familial history of HCM, pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy should prompt LAMP-2 clinical testing. Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease.