Suzuki K, Murakami Y, Mori K, Mimori S
Department of Pediatric Cardiology, Sakakibara Heart Institute, Tokyo.
J Cardiol Suppl. 1991;25:161-72; discussion 173-4.
We experienced four boys (two siblings) whose cardiac valves were all prolapsed, which have never been reported as a recognized disease. All had hyperextensive joints without any other stigmata of Marfan or Ehlers-Danlos syndrome. The severity and progression of regurgitation of each valve differed by a case, though they had similar echocardiographic findings consistent with the diagnosis of multiple floppy valves. Three of the four patients had severe aortic regurgitation, and two received aortic valve replacement. Their excised valves revealed myxomatous degeneration. The tricuspid valves were more thickened and redundant than the mitral valves. Although three patients had moderate tricuspid regurgitation, none of them had clinically important mitral regurgitation. We recommend aortic and/or mitral valve replacement, whenever the regurgitation exacerbates left ventricular dilatation. Aortic regurgitation deteriorated rapidly in one case due to valve rupture. In this case, moderate tricuspid regurgitation was relieved after aortic valve replacement. Skin fibroblast did not show any abnormalities in collagen biosynthesis.
我们遇到了四个男孩（其中两个是兄弟），他们的心脏瓣膜均发生脱垂，这作为一种已确认的疾病从未有过报道。所有人都有关节过度伸展，而没有马凡综合征或埃勒斯-当洛综合征的任何其他体征。尽管他们有相似的超声心动图表现，符合多瓣膜松弛的诊断，但每个瓣膜反流的严重程度和进展情况因病例而异。四名患者中有三名患有严重的主动脉瓣反流，其中两名接受了主动脉瓣置换术。他们切除的瓣膜显示出黏液样变性。三尖瓣比二尖瓣增厚且冗长。虽然三名患者有中度三尖瓣反流，但他们均无具有临床意义的二尖瓣反流。我们建议，一旦反流加剧导致左心室扩张，就进行主动脉瓣和/或二尖瓣置换术。有一例因瓣膜破裂，主动脉瓣反流迅速恶化。在此病例中，主动脉瓣置换术后中度三尖瓣反流得到缓解。皮肤成纤维细胞在胶原蛋白生物合成方面未显示任何异常。
