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Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient
Cardiovascular Pathology ( IF 3.7 ) Pub Date : 2020-10-09 , DOI: 10.1016/j.carpath.2020.107297
Josef Marek , Petr Kuchynka , Vladimir Mikulenka , Tomas Palecek , Jakub Sikora , Helena Hulkova , Lukas Lambert , Hana Linkova , David Zemanek , Marketa Tesarova , Ales Linhart , Jiri Zeman , Martin Magner

Mucopolysaccharidosis type VII (MPS VII) is a rare autosomal recessive lysosomal storage disorder. MPS VII is caused by mutations in the GUSB gene that encodes β-glucuronidase. Adult MPS VII patients present with musculoskeletal abnormalities, coarse features, and corneal clouding. Cardiac and valvular impairment are common; however, severe valvular disease necessitating surgery has not yet been reported. We present a 32-year-old male MPS VII patient admitted to our hospital with decompensated heart failure. We identified aortic valve disease with severe stenosis (valve area 0.69 cm2) and moderate regurgitation. Severe mitral valve stenosis (valve area 1 cm2) with moderate to severe regurgitation was also found in the patient. In addition, an occlusion of the right coronary artery (RCA) was documented. The patient underwent surgical replacement of the mitral and aortic valves with mechanical prostheses and implantation of a venous bypass graft to his RCA. The surgery led to a significant improvement of his clinical symptoms. Six months after the procedure, both mechanical valves function normally. Histopathological assessment identified chronic inflammatory infiltrates, fibrosis and calcifications in both resected valves. Foamy cytoplasmic transformation was most evident in the valvular interstitial cells. The ultrastructural vacuolar abnormality seen in these cells corresponded to storage changes observed in other MPSs. In conclusion, we describe clinical findings and valvular pathology in an MPS VII patient with the first-reported successful combined surgical valve replacement and myocardial revascularization. The histological and ultrastructural analyses revealed that the lysosomal storage predominantly affected the valvular interstitial cells.



中文翻译:

成人VII型黏多糖贮积病患者联合瓣膜置换和冠状动脉搭桥术

VII型粘多糖贮积病(MPS VII)是一种罕见的常染色体隐性溶酶体贮积病。MPS VII是由编码β-葡萄糖醛酸苷酶的GUSB基因突变引起的。MPS VII成年患者表现出肌肉骨骼异常,粗大特征和角膜混浊。心脏和瓣膜损伤很常见;然而,尚未报道需要手术的严重瓣膜疾病。我们介绍了一名因失代偿性心力衰竭入院的32岁男性MPS VII患者。我们发现主动脉瓣疾病伴严重狭窄(瓣膜面积0.69 cm 2)和中度返流。严重的二尖瓣狭窄(瓣膜面积1 cm 2患者中还发现有中度至重度反流。另外,记录了右冠状动脉(RCA)的阻塞。该患者接受了机械假体的二尖瓣和主动脉瓣的外科手术置换,并在其RCA中植入了静脉旁路移植物。手术使他的临床症状大大改善。手术六个月后,两个机械阀均正常工作。组织病理学评估确定了两个切除瓣膜中的慢性炎性浸润,纤维化和钙化。泡沫细胞质转化在瓣膜间质细胞中最明显。在这些细胞中观察到的超微结构空泡异常对应于在其他MPS中观察到的贮藏变化。结论,我们描述了MPS VII患者的临床发现和瓣膜病理学,该患者首次报告成功的手术瓣膜置换和心肌血运重建相结合。组织学和超微结构分析表明,溶酶体贮藏主要影响瓣膜间质细胞。

更新日期:2020-10-17
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