Carrel T
Universitätsklinik für Thorax-, Herz- und Gefässchirurgie, Inselspital Bern.
Schweiz Med Wochenschr. 1997 Jun 7;127(23):992-1006.
It has been clearly recognized that the diagnosis, management and long-term follow-up of operated and non-operated Marfan patients require a multidisciplinary approach. Despite the high quality of medical care in this country, the diagnosis of Marfan syndrome will be delayed in a majority of the cases even if the patient has already been treated for one of the aspects of this disease. Indications for surgery have recently been simplified. Regarding aortic and mitral valve regurgitation, the indications for surgical repair are similar to those of non-Marfan patients. The aortic root and ascending aorta should be replaced when the diameter reaches 50 to 55 mm. In children and adolescents, surgery is considered indicated when the diameter of the diseased aortic segment is more than twice the diameter of the normally expected aortic arch. This review presents a single center experience in the surgical treatment of cardiovascular manifestations associated with Marfan syndrome and summarizes some interesting cases treated in the recent past. Despite the progress made in the fields of surgery, anesthesiology, intensive care and cardiology, the mortality of acute surgery because of aortic dissection remains about 10% whereas elective surgery can be performed with a perioperative risk of around 2%. Even if composite graft replacement gives excellent long-term results, some alternatives to this technique should be considered, especially in patients in whom anticoagulation with cumadines is not recommended. More recently, a Working group for Adult and Teenager Congenital Heart Disease (WATCH) has been established within the Swiss Society of Cardiology, with the aim of optimizing the management of grown-up patients with congenital heart defects. Marfan syndrome was included in the recommendations of this group. Follow-up before or after surgery is recommended at yearly (or half-yearly) intervals and should include echocardiography and/or computed tomography or magnetic resonance imaging. Finally, the patient and his family should be informed about the prognosis of the disease, the technical options in the treatment of cardiovascular manifestations, and the possibility of assistance from the Marfan Foundation.
已经明确认识到，对接受手术和未接受手术的马凡综合征患者进行诊断、管理和长期随访需要多学科方法。尽管该国医疗质量很高，但即使患者已经因该疾病的某一方面接受过治疗，大多数情况下马凡综合征的诊断仍会延迟。最近手术指征已被简化。关于主动脉瓣和二尖瓣反流，手术修复指征与非马凡综合征患者相似。当主动脉根部和升主动脉直径达到50至55毫米时，应进行置换。在儿童和青少年中，当病变主动脉段直径超过正常预期主动脉弓直径的两倍时，考虑进行手术。本综述介绍了单中心治疗马凡综合征相关心血管表现的经验，并总结了近期治疗的一些有趣病例。尽管在外科手术、麻醉学、重症监护和心脏病学领域取得了进展，但因主动脉夹层进行急诊手术的死亡率仍约为10%，而择期手术的围手术期风险约为2%。即使复合移植物置换能带来出色的长期效果，也应考虑该技术的一些替代方法，尤其是对于不推荐使用香豆素类进行抗凝的患者。最近，瑞士心脏病学会内成立了成人和青少年先天性心脏病工作组（WATCH），旨在优化先天性心脏缺陷成年患者的管理。马凡综合征被纳入该组的建议中。建议在手术前后每年（或每半年）进行随访，应包括超声心动图和/或计算机断层扫描或磁共振成像。最后，应告知患者及其家属疾病的预后、心血管表现的治疗技术选择以及马凡基金会提供帮助的可能性。
