Avaliação ecocardiográfica de pacientes com mucopolissacaridose tipo IVA antes e 6 meses após TRE.

Abstract

Mucopolysaccharidosis IVA (MPSIVA) or Morquio A syndrome is an autosomal recessive disease caused by an enzyme deficiency that leads to the progressive accumulation of chondroitin-6-sulfate and keratan sulfate in various organs and systems, including the cardiovascular system. The Enzyme Replacement Therapy (ERT) to MPSIVA was approved by the FDA (USA), EMEA (Europe) only in 2014 and later by Anvisa (Brazil), which explains the limited knowledge about its effect on the development of cardiovascular compromise in that mucopolysaccharidosis. Although MPSIVA is a rare disease, its frequency in Paraíba is one of the highest in Brazil, which offers a special condition for research on the disease. Objective: To describe the echocardiographic changes in patients with MPSIVA before and after 6 months of ERT. Methods: a prospective, descriptive and observational study involving 10 patients, median age 29.2 years (range 17-37 years, SD ± 7.15 years). Of these, 7 patients (70%) were male and 3 patients (30%) women with clinical and laboratory diagnosis of MPS IVA, analyzed by a single specialist qualified in echocardiography. Results: Before ERT, 90% of patients had some echocardiographic abnormalities, 60% of them presenting valve change, regurgitation and thickening was the most frequent findings, both at 50%, and mild diastolic dysfunction in 50%. The most affected valves were tricuspid and aortic (both in 30% of patients). It was observed the presence of pulmonary artery pressure at the upper limit (PSAP: 35 mmHg) in 1 patient (10%) and dilated abdominal aorta in 1 patient (10%). After ERT, a reduction in tricuspid regurgitation in 1 patient (10%), improved ejection fraction (EF) in 1 patient (10%), and reduced EF in 1 patient, both variations within the normal range, besides there was disappearance of the previous findings of PSAP at the upper limit and dilated abdominal aorta. However, there was a new occurrence of diastolic dysfunction in 1 patient (10%). The objectives of the echocardiogram data, the only variables that showed statistically significant difference comparing before and after 6 months of ERT were: an increase in the left atrium (mean = 25.50; p = 0.01) and increased E / E '(mean = 9.78; p = 0.05). Conclusion: In echocardiographic analysis of patients with MPSIVA after 6 months of ERT was observed progression of cardiovascular involvement in general, however the improvement of FE can point to positive performance of ERT, while the improvement in tricuspid regurgitation and the absence of aortic dilated in examining the follow-up may indicate a intraobserver variation. Therefore, it is necessary further studies for it to conclude that the rate of disease progression in the cardiovascular system in patients under ERT is different from that of the natural history of the disease.