Braverman A C
Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Med Sci Sports Exerc. 1998 Oct;30(10 Suppl):S387-95. doi: 10.1097/00005768-199810001-00007.
The Marfan syndrome is a heritable disorder of connective tissue affecting approximately one in 5000 to one in 10,000 individuals. The manifestations of the Marfan syndrome primarily involve the cardiovascular, musculoskeletal, and ocular systems. Aortic dilatation and dissection are the major causes of morbidity and mortality in the Marfan syndrome. The person with Marfan syndrome is often tall and agile and may unknowingly participate in certain physical activities and sports, putting himself or herself at risk for aortic dissection and sudden death. With appropriate diagnosis and treatment, the person with the Marfan syndrome can expect to live a long life. This article will review the diagnosis, genetics, clinical manifestations, and medical and surgical management of the Marfan syndrome. Guidelines for physical activity and exercise for the person with Marfan syndrome will be presented.
马凡综合征是一种遗传性结缔组织疾病，发病率约为五千分之一至万分之一。马凡综合征的临床表现主要累及心血管、肌肉骨骼和眼部系统。主动脉扩张和夹层是马凡综合征发病和死亡的主要原因。马凡综合征患者通常身材高大且动作敏捷，可能会在不知情的情况下参与某些体育活动和运动，从而使自己面临主动脉夹层和猝死的风险。通过适当的诊断和治疗，马凡综合征患者有望长寿。本文将综述马凡综合征的诊断、遗传学、临床表现以及内科和外科治疗。还将介绍马凡综合征患者的体育活动和锻炼指南。
