Ammash Naser M, Sundt Thoralf M, Connolly Heidi M
Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Curr Probl Cardiol. 2008 Jan;33(1):7-39. doi: 10.1016/j.cpcardiol.2007.10.001.
Marfan syndrome (MFS) is the most common inherited disorder of connective tissue that affects multiple organ systems. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic testing is available, the diagnosis is still primarily made using the Ghent criteria. Early identification and appropriate management is critical for patients with MFS who are prone to the life-threatening cardiovascular complications of aortic dissection and rupture. Advances in the understanding of the cause of MFS, early recognition of the disorder, and subsequent institution of medical and surgical therapy has resulted in dramatic improvement in the prognosis of this patient population over the past few decades. Beta-blockers have been demonstrated to slow aortic growth and thus delay the time to aortic surgery. Operative intervention has markedly changed the prognosis of patients with MFS and can be safely performed on an elective basis. Identification of presymptomatic patients is critical to reduce the frequency of catastrophic aortic events.
马凡综合征（MFS）是最常见的遗传性结缔组织疾病，可影响多个器官系统。这种常染色体显性疾病的发病率为每10000人中有2至3人。尽管有基因检测可用，但诊断仍主要依据根特标准进行。对于易发生危及生命的主动脉夹层和破裂等心血管并发症的马凡综合征患者，早期识别和适当管理至关重要。在过去几十年里，对马凡综合征病因的认识、对该疾病的早期识别以及随后采取的药物和手术治疗取得了进展，这使得该患者群体的预后有了显著改善。已证明β受体阻滞剂可减缓主动脉生长，从而延迟主动脉手术时间。手术干预显著改变了马凡综合征患者的预后，并且可以在择期基础上安全进行。识别无症状患者对于减少灾难性主动脉事件的发生频率至关重要。
