Melissari M, Giordano G, Crafa P, Martella E M, Ricci R
Department of Pathology, University of Parma, Italy.
Pathologica. 1995 Feb;87(1):78-81.
Mitral valve prolapse (MVP) is a common pathological finding in several inherited connective-tissue diseases among which the Marfan syndrome. In the literature several cases of Marfan syndrome characterized by schizophrenia, chronic obstructive pulmonary disease and severe mitral regurgitation due to a MVP have been reported. Our case of MVP was observed in a patient with Marfan syndrome with its characteristic musculoskeletal disorders associated with congenital cardiac disease, severe chronic obstructive pulmonary disease and schizophrenia. According to the latest genetic studies, Marfan syndrome seems to result from genetic mutations in an extracellular matrix glycoprotein, fibrillin. Authors believe that MVP represents only one of several pathological alterations which may be seen in the Marfan syndrome, as expression of a more generalized genetic disorder.
二尖瓣脱垂（MVP）是几种遗传性结缔组织疾病中的常见病理表现，其中包括马凡综合征。文献中已报道了几例以精神分裂症、慢性阻塞性肺疾病以及因二尖瓣脱垂导致的严重二尖瓣反流为特征的马凡综合征病例。我们观察到的二尖瓣脱垂病例发生在一名患有马凡综合征的患者身上，该患者伴有与先天性心脏病、严重慢性阻塞性肺疾病和精神分裂症相关的典型肌肉骨骼疾病。根据最新的基因研究，马凡综合征似乎是由细胞外基质糖蛋白原纤维蛋白的基因突变引起的。作者认为二尖瓣脱垂只是马凡综合征中可能出现的几种病理改变之一，是一种更普遍的基因紊乱的表现。
