Arn P H, Scherer L R, Haller J A, Pyeritz R E
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
J Pediatr. 1989 Dec;115(6):954-8. doi: 10.1016/s0022-3476(89)80749-8.
We reviewed the records of 28 patients with Marfan syndrome and 30 age-matched control patients with presumed isolated pectus excavatum to determine the outcome of surgical repair of the pectus deformity in Marfan syndrome. One third of the patients with Marfan syndrome underwent repair of the pectus excavatum before diagnosis. Of the 30 patients with "isolated" pectus excavatum, 17 had findings by history or physical examination, such as mitral valve prolapse, scoliosis, or a relative with pectus excavatum, suggestive of an underlying disorder of connective tissue. Pectus excavatum of more than moderate severity recurred in 11 of 28 patients with Marfan syndrome and was associated with young age at initial surgery and lack of temporary internal stabilization of the chest after surgery. Only two of the control patients had recurrence of the defect; one of these patients had findings suggestive of an underlying heritable disorder of connective tissue. We conclude that pectus excavatum may indicate the presence of an underlying heritable disorder of connective tissue such as the Marfan syndrome. In patients with Marfan syndrome, and possibly other inherited connective tissue disorders, surgical repair should be delayed if possible until skeletal maturity is nearly complete and should employ internal stabilization.
我们回顾了28例马凡综合征患者及30例年龄匹配、诊断为单纯漏斗胸的对照患者的记录，以确定马凡综合征患者漏斗胸畸形手术修复的结果。三分之一的马凡综合征患者在确诊前接受了漏斗胸修复手术。在30例“单纯”漏斗胸患者中，17例通过病史或体格检查发现，如二尖瓣脱垂、脊柱侧弯或有漏斗胸家族史，提示存在潜在的结缔组织疾病。28例马凡综合征患者中，11例漏斗胸严重程度超过中度的患者出现复发，这与初次手术时年龄较小以及术后胸部缺乏临时内部固定有关。对照患者中只有2例出现缺损复发；其中1例患者有提示潜在遗传性结缔组织疾病的表现。我们得出结论，漏斗胸可能提示存在潜在的遗传性结缔组织疾病，如马凡综合征。对于马凡综合征患者以及可能的其他遗传性结缔组织疾病患者，手术修复应尽可能推迟至骨骼成熟接近完成，并应采用内部固定。
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