DELGADO, C. C. M.; SILVA, M. I. S.; http://lattes.cnpq.br/5593270672624365; http://lattes.cnpq.br/0095720848308929; DELGADO, Caio César Melo.; SILVA, Mayara Ingrid Souza.
Résumé:
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.
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