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目的检测微纤维蛋白1在先天性二叶型主动脉瓣中的表达,探讨先天性二叶型主动脉瓣的分子学机制。方法选取因先天性二叶型主动脉瓣伴主动脉瓣狭窄(AS)和/或主动脉瓣关闭不全(AI)行主动脉瓣置换术切取的儿童二叶型主动脉瓣为研究组(男11例,女1例,年龄10～18岁,平均16.7岁,其中单纯 AS 3例、单纯 AI 8例、AS-AI 1例),同期、性别、年龄相近、无心血管系统及胶原系统疾病、意外死亡患儿的正常三叶型主动脉瓣(健康对照组,男6例,女2例,年龄1～17岁,平均9.1岁)和性别、年龄相近风湿性心脏病患儿的主动脉瓣(风心病组,男13例,女5例,年龄12～18岁,平均16.5岁)为对照组,采用免疫组织化学方法检测主动脉瓣标本中微纤维蛋白1表达,经Image-Pro Plus Version 5.0彩色图像分析系统测定标本免疫组织化学染色灰度值,染色越深,灰度值越小,表明阳性越强。结果微纤维蛋白1在主动脉瓣中的表达平均灰度值为:先天性二叶型主动脉瓣组170±10、正常对照组126±8、风心病组73±16,先天性二叶型主动脉瓣组微纤维蛋白1表达显著低于正常对照组和风心病组(均 P<0.05),风心病组微纤维蛋白1表达显著高于先天性二叶型主动脉瓣组和正常对照组(均 P<0.05)。先天性二叶型主动脉瓣中单纯 AS、单纯 AI、AS-AI 微纤维蛋白1表达的平均灰度值分别为167±6、171±8、168±6,三者之间差异无统计学意义。结论先天性二叶型主动脉瓣微纤维蛋白1表达降低,可能由于先天性合成不足和(或)降解过多所致,因而主动脉瓣形态改变、功能障碍。
Objective To detect the expression of fibrillin 1 in congenital bileaflet aortic valve and to explore the molecular mechanism of congenital bileaflet aortic valve. Methods Aortic valve replacement in children undergoing congenital bileaflet aortic valve stenosis with aortic stenosis (AS) and / or aortic valve regurgitation (AI) under aortic valve replacement was selected as the study group (male 11 cases, 1 female, aged 10 to 18 years old, average 16.7 years old, including simple AS in 3 cases, simple AI in 8 cases and AS-AI in 1 case). There were no cardiovascular diseases and collagen-related diseases in the same period. In the accidental death of children with normal trilobular aortic valve (healthy control group, 6 males and 2 females, aged 1 to 17 years, mean 9.1 years) and gender, age, rheumatic heart disease in children with aortic valve (Rheumatic heart disease group, 13 males and 5 females, aged 12 to 18 years, mean 16.5 years) as control group, immunohistochemical detection of aortic valve specimens microfibrin 1 expression by Image-Pro Plus Version 5.0 color image analysis system Determination of immunohistochemical staining gray value, the deeper the staining, the smaller the gray value, indicating that the stronger the positive. Results The average gray value of fibrillin 1 expression in aortic valve was 170 ± 10 in congenital two-lobe aortic valve group, 126 ± 8 in normal control group, 73 ± 16 in rheumatic heart disease group, Micro-fibrin-1 expression in aortic valve group was significantly lower than that in normal control group and rheumatic heart disease group (all P <0.05). The expression of micro-fibrin 1 in rheumatic heart disease group was significantly higher than that in congenital bileafillary aortic valve group and normal control group All P <0.05). The average gray value of simple AS, simple AI, AS-AI microfibrillar protein 1 in congenital bileaflet aortic valve was 167 ± 6,171 ± 8,168 ± 6, respectively, with no significant difference among the three groups significance. Conclusions The congenital biaxial aortic valve fibrillarin 1 is decreased, which may be due to congenital hypoxia and / or hypercholesterolemia. Therefore, aortic valve morphology changes and dysfunction occurs.