Boyer A, Marie I, Primard E, Cailleux N, Lévesque H, Courtois H
Département de Médecine Interne, CHU Rouen Boisguillaume.
J Mal Vasc. 1999 May;24(2):139-42.
Marfan syndrome is an hereditary condition which primarily affects conjunctive tissue with predominant vascular lesions, aortic insufficiency and aortic dissection which condition vital prognosis. Until further progress is made in the genetic determination of the disease, the diagnosis is currently based on the association of clinical criteria, which enables multidisciplinary management. This approach should lead to specific medical and surgical treatment--which may reduce Marfan morbidity and mortality. We report the case of a 45 year-old patient with suspected Marfan syndrome during adolescence. The presence of a cardiovascular lesion and a recently reported abnormality i.e. a sacral erosion by a dural ectasia, enabled us to confirm the diagnosis. We reviewed the current criteria in Marfan diagnosis and their specific management.
马凡综合征是一种遗传性疾病，主要影响结缔组织，伴有主要的血管病变、主动脉瓣关闭不全和主动脉夹层，这些情况对生命预后至关重要。在该疾病的基因测定取得进一步进展之前，目前的诊断基于临床标准的综合判断，这有助于进行多学科管理。这种方法应能带来特定的药物和手术治疗，这可能降低马凡综合征的发病率和死亡率。我们报告一例45岁患者，其在青少年时期被怀疑患有马凡综合征。心血管病变的存在以及最近报告的一项异常情况，即硬脊膜膨出导致的骶骨侵蚀，使我们得以确诊。我们回顾了马凡综合征诊断的当前标准及其具体管理方法。
