Avaliação de pacientes com mucopolissacaridoses tipo IVA sob aspectos eletrocardiográficos e ecocardiográficos.

Abstract

INTRODUCTION: Mucopolysaccharidosis type IVA is included in a group of rare genetic diseases called Mucopolysaccharidoses (MPS), characterized by mutation in genes encoding lysosomal enzymes, responsible for the metabolism of glycosaminoglycans (GAGs), so the bad functioning of these enzymes causes gradual accumulation of GAGs in the different organs. Enzyme Replacement Therapy (ERT) ushered in a new era of disease, bringing prospects for improvement and encouraging the verification of effective action of that treatment. OBJECTIVES: To evaluate the evolution of cardiac involvement through echocardiographic and electrocardiographic parameters before Enzyme Replacement (TRE) and one year after ERT in patients with Down Syndrome de Morquio A. METHODOLOGY: A cross-sectional, observational, of a retrospective nature, with quantitative and qualitative analysis of the data obtained from from a sample of 14 patients with diagnostic confirmation, assisted in the Alcides Carneiro University Hospital of the Federal University of Campina Big. RESULTS: In electrocardiographic examinations, patients showed a high prevalence of diffuse repolarization (64.43%) and deviation of the QRS (42.86%), attributed to rib cage deformities and vector deviation. While on echocardiograms, there was a high frequency of type I diastolic dysfunction mild (71.43%), in addition to preferentially aortic valve involvement (64.28%) and mitral valve (57.14), without hemodynamic repercussion. After a year of therapy Enzyme Replacement, no functional changes were observed, nor difference with statistical significance between genders. CONCLUSION: Our study found similar result with the current literature in the baseline evaluation of the patients. for if dealing with a progressive disease, the fact that in one year the findings do not evolve, may suggest a positive action of Enzyme Replacement Therapy. Mais sobre o texto originalÉ necessário fornecer o texto original para ver mais informações sobre a tradução Enviar feedback Painéis laterais