Saint-Mézard G, Chanudet X, Duret J C, Larrue J, Bonnet J, Bricaud H
Arch Mal Coeur Vaiss. 1986 Apr;79(4):431-4.
Pectus excavatum is a common malformation in diseases of elastic tissue (Marfan, Ehlers-Danlos...). When observed apparently alone it may represent a minor form of dystrophy, implying the same risk of a cardiac lesion. Abnormalities of the thoracic skeleton and echocardiographic mitral valve prolapse is a well established association, suggesting a common disorder of connective tissue. However, there is no absolute proof that this is a statistically significant association. Histological connective tissue changes relating these two markers have yet to be found. Clinical and echocardiographic examinations and skin biopsies were performed in 17 patients with pectus excavatum. Mitral valve prolapse was detected in 65% of cases (associated in 1 out of 3 cases with tricuspid valve prolapse). In 53% of cases electron microscopy showed abnormal skin collagen and elastin. Collagen abnormalities were twice as common as those of elastin and could be associated. Mixed changes of thinning of elastin and collagen fibres of irregular calibre were particularly suggestive. Pectus excavatum would therefore seem to be the expression of a minor form of dystrophy of collagen and elastin tissues and a clinical marker of possible mitral valve prolapse.
漏斗胸是弹性组织疾病（马凡氏综合征、埃勒斯-当洛综合征……）中常见的一种畸形。当明显单独出现时，它可能代表一种轻度的营养不良形式，意味着存在相同的心脏病变风险。胸廓骨骼异常与超声心动图显示的二尖瓣脱垂之间的关联已得到充分证实，提示存在结缔组织的共同疾病。然而，尚无绝对证据表明这是一种具有统计学意义的关联。尚未发现将这两种标志物联系起来的组织学结缔组织变化。对17例漏斗胸患者进行了临床、超声心动图检查及皮肤活检。65%的病例检测到二尖瓣脱垂（三分之一的病例伴有三尖瓣脱垂）。53%的病例电子显微镜显示皮肤胶原蛋白和弹性蛋白异常。胶原蛋白异常的发生率是弹性蛋白异常的两倍，且可能同时存在。弹性蛋白和胶原蛋白纤维变细且口径不规则的混合变化尤其具有提示意义。因此，漏斗胸似乎是胶原蛋白和弹性蛋白组织轻度营养不良形式的表现，也是可能的二尖瓣脱垂的临床标志物。
