Cardiac Complications in Maroteaux-Lamy Syndrome： Case Report  

作　　者：Ricardo Siqueira Gongalves Claudia Aparecida Marques Landim Jesuita Mendes Cornelio Joaquim Tomaz da Silva 

机构地区：[1]Graduating in Medicine. Universidade do Estado de Mato Grosso--UNEMAT Liga Academica de Cardiologia e Cirurgia [2]Department of Cardiology and Intensive Medicine--Universidade do Estado de Mato Grosso--UNEMAT Liga Academica de Cardiologia e Cirurgia Cardiovascular (LACCIC), Caceres--MT 78200-000, Brazil [3]Department of Pediatric Nursing--Hospital Municipal de Unai-MG (HMU), Unai-MG 38610-000, Brazil [4]Department of General Surgery~Hospital Municipal de Unai-MG (HMU), Unai--MG 38610-000, Brazil

出　　处：《Journal of Pharmacy and Pharmacology》2018年第4期410-414,共5页药剂与药理学（英文版）

摘　　要：MLS （Maroteaux-Lamy syndrome） or MPS VI （mucopolysaccharidosis VI） is an autosomal recessive pathology in which there is absence or low activity of the enzyme N-Acetylgalactosamine-4-Sulfatase, which hydrolyzes GAGs （glycosaminoglycans） in the body （mainly dermatan sulfate）. Consequently, there occurs lysosomal deposition of GAGs in connective tissue multisystemic. Myocardium and heart valves are frequently affected structures, presenting a direct correlation with the reports of complications and deaths. Case report： RGS, male, 3 years and 2 months, diagnosed with MPS VI from the first month of life, in weekly ERT （enzyme replacement therapy） since 4 months of age （inconstant）. At physical examination： normotensive, with holosystolic heart murmur 3＋/6＋ in mitral focus. Complementary tests： normal electrocardiogram, echocardiogram with pronounced mitral regurgitation, concentric left ventricular hypertrophy of moderate degree and mild aortic insufficiency. Discussion： Mitral valve disease is common in patients with MLS. Conditions such as cardiomyopathy, fibroelastosis, aneurysm and pulmonary hypertension may occur in these patients, indicative of morbidity and mortality. Early and constant ERT may be useful in slowing a progression of heart disease. Conclusions： follow-up with a cardiologist is important to evaluate the progression of cardiac complications in MPS VI. Constant and early ERT provides better prognosis for these patients.

关 键 词：Mucopolysaccharidosis VI N-acetylgalactosamine-4-sulfatase mitral valve insufficiency enzyme replacement therapy. 

分 类 号：S858.31[农业科学—临床兽医学] S858.292[农业科学—兽医学]