儿童先天性主动脉瓣畸形32例病理组织学特征

目的 探讨儿童先天性主动脉瓣畸形的病理组织学特征，为诊断提供依据。方法 对2003年1月至2005年12月因先天性主动脉瓣畸形、主动脉瓣功能障碍行外科手术切除的32例儿童主动脉瓣标本进行大体观察和组织学检查，复习病史并摘录相关资料，分析其病理组织学特征。诊断依据临床表现、术前超声心动图、术中所见及术后病理组织学检查，除外风湿性或退行性主动脉瓣病变、感染性心内膜炎及原发性结缔组织病变如Marfan综合征。结果 32例儿童先天性主动脉瓣畸形中，男性27例，女性5例，男：女=5.4：1，年龄6~18岁，平均年龄14.9岁。二叶型占37.5％（12例），三叶型59.4％（19例），四叶型3.1％（1例）。主动脉瓣狭窄（aortic stenosis，AS）5例（15.62%），主动脉瓣关闭不全（aortic insufficiency，AI）25例（78.13%），AS-AI 2例（6.25%），均不伴其他心脏瓣膜病变。20例伴其他先天性心脏病：室间隔缺损19例，动脉导管未闭2例，右室双腔心1例，主动脉右冠窦瘤3例。病理组织学改变为瓣叶增厚、大小不等、不规则（卷曲或脱垂）及坚度增加，部分伴钙化，光镜下示纤维组织增生，粘液样变性，胶原纤维溶解、断裂，弹性纤维破坏，偶见胶原纤维玻璃样变性、灶性钙化，无小血管增生及炎性细胞浸润。少数可见心内膜面局部破溃，内皮下毛细血管增生，纤维素性渗出，炎性细胞浸润，继发性钙质、脂质沉着和纤维化。结论 儿童先天性主动脉瓣畸形以男性为多见，二叶型、三叶型主动脉瓣常见，常伴有其他先天性心脏病，瓣膜功能障碍以AI为主，病理组织学改变主要为为瓣叶增厚、大小不等、不规则（卷曲或脱垂），光镜下示纤维组织增生，粘液样变性，胶原纤维溶解、断裂，弹性纤维破坏，无小血管增生及炎性细胞浸润，而纤维化、钙化少见。

Histopathological study of congenital aortic valve malformation in 32 children

Objective To investigate the histopathological characteristics of congenital aortic valve malformation in children. Methods All the native surgically excised aortic valves from 32 pediatric patients with symptomatic aortic valve dysfunction due to congenital aortic valve malformation admitted from January 2003 to December 2005 were studied macroscopically and microscopically. The patients' medical records were reviewed and the clinical information was extracted. The diagnosis was made by the clinical presentation, preoperative echocardiography, intraoperative examination, and postoperative histopathological study, excluding rheumatic or degenerative aortic valve disease, infective endocarditis and primary connective tissue disorders, eg, Marfan syndrome. Results Among 32 aortic valves,patient age was ranged from 6 to 18 years,with a mean value of 14. 9 years, and there were 27 men and 5 women, male: female = 5. 4:1. There were 5 aortic stenosis ( AS, 15. 6% ) ,25 aortic insufficiency (AI,78. 1% ) and 2 AS-AI(6.2% ) cases,without other valve diseases. Twenty had other congenital heart diseases:ventricular septal defect, 19; patent ductus arteriosus, 2; double chamber right ventricles, 1; aortic right coronary sinus aneurysm, 3. Histopathological examination indicated that the cusp became thickening with unequal size, irregular shape (coiling and prolapse edge),enhanced hardness, and partly calcification. Microscopical investigation showed the unsharp structure of valve tissue, fibrosis,myxomatous, reduce of collagen fiber, rupture of elastic fibers, infiltration of inflammatory cells with different degrees, secondary calcareous and lipid deposit,and secondary fibrosis. Conclusions Congenital aortic valve malformation in children involves male more than female, is mostly associated with other congenital heart diseases. Aortic insufficiency is more common in children with congenital aortic valve malformation. Histopathologically, the leaflets of aortic valve are mainly myxomatous, thickening with unequal size, irregular shape (coiling and prolapse edge),reduce of collagen fiber, rupture of elastic fibers, without small vessel proliferation and inflammatory cell infiltration, fibrosis and calcification are rarely seen.