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目的评价经胸超声心动图在诊断先天性主动脉瓣病变中的应用价值。方法临床确诊的先天性主动脉瓣病变患者43例,其中男性25例,女性18例;年龄4～46岁,平均年龄23.4岁。纯合子家族性高胆固醇血症(HoFH)患者7例,主动脉瓣二叶畸形(BAV)患者35例,罕见的主动脉瓣下移畸形1例。回顾分析经胸超声心动图检查结果,并与彩色多普勒结果比较。结果 7例HoFH患者均以主动脉瓣上狭窄为主要特征,钙化累及主动脉瓣或主动脉根部,所有患者均有主动脉瓣反流。35例BAV患者中14例仅表现为主动脉瓣反流,其中中度反流8例,轻度反流6例;9例患者仅表现为单纯的主动脉瓣狭窄,12例患者同时出现主动脉瓣狭窄和反流。5例患者同时伴有升主动脉扩张。1例罕见的先天性主动脉瓣下移畸形仅表现为大量的主动脉瓣反流。结论经胸超声心动图能无创性诊断先天性主动脉瓣病变,并能对继发改变做出准确的评价。
Objective To evaluate the value of transthoracic echocardiography in the diagnosis of congenital aortic valve disease. Methods The clinical diagnosis of congenital aortic valve disease in 43 patients, including 25 males and 18 females; aged 4 to 46 years, with an average age of 23.4 years. Seven patients with homozygous familial hypercholesterolemia (HoFH), 35 with aortic valve double-lobe (BAV), and 1 with rare aortic regurgitation. The results of transthoracic echocardiography were retrospectively analyzed and compared with color Doppler results. Results The 7 patients with HoFH were all characterized by aortic stenosis. Calcification affected the aortic valve or the aortic root. All patients had aortic regurgitation. Of the 35 BAV patients, 14 showed only aortic regurgitation with moderate reflux in 8 and mild reflux in 6, 9 in only aortic valve stenosis and 12 in both Aortic valve stenosis and reflux. Five patients accompanied by ascending aortic dilatation. A rare case of congenital aortic regurgitation showed only a large number of aortic regurgitation. Conclusion Transthoracic echocardiography can diagnose congenital aortic valve disease noninvasively and make an accurate assessment of secondary changes.