Powell Adam W, Taylor Michael D, Burrow T Andrew, Hopkin Robert J, Prada Carlos E, Jefferies John L
Tex Heart Inst J. 2017 Dec 19;44(6):420-423. doi: 10.14503/THIJ-16-6121. eCollection 2017 Dec.
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective -acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as thickening of the left-sided valves, ventricular hypertrophy, and intimal stenosis of the coronary arteries. There have been few reports of vasculopathy in this population. We present the case of a 58-year-old woman with Morquio A syndrome who was found to have aortic dilation on a routine screening echocardiogram. Magnetic resonance images revealed multiple tortuous, dilated arteries in her head, neck, and abdomen. The diffuse vasculopathy seen in this patient should prompt further study to determine whether this is an underreported phenomenon of clinical significance or an unusual finding in this rare disorder.
莫尔基奥A综合征（黏多糖贮积症IV型A）是一种常染色体隐性溶酶体贮积病，由缺陷的N - 乙酰半乳糖胺6 - 硫酸酯酶基因引起，导致硫酸角质素和硫酸软骨素6在溶酶体中蓄积。这种蓄积影响多个系统，并引起显著的心血管表现，如左侧瓣膜增厚、心室肥大和冠状动脉内膜狭窄。关于该人群血管病变的报道很少。我们报告了一例58岁患有莫尔基奥A综合征的女性病例，其在常规筛查超声心动图中被发现有主动脉扩张。磁共振成像显示其头部、颈部和腹部有多处迂曲、扩张的动脉。该患者出现的弥漫性血管病变应促使进一步研究，以确定这是一种未被充分报道的具有临床意义的现象，还是这种罕见疾病中的一种异常发现。
