MELO, I. C. P.; PAULA, I. S.; http://lattes.cnpq.br/5414652071392849; http://lattes.cnpq.br/0996733249484109; MELO, Isabela Catarina Pessoa de.; PAULA, Isadora Souza.
Résumé:
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.