Centre de Référence pour le Syndrome de Marfan et Apparentés, Hôpital Bichat, 75018 Paris, France.
Circulation. 2012 Jan 17;125(2):226-32. doi: 10.1161/CIRCULATIONAHA.111.054676. Epub 2011 Dec 1.
Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease.
We used our database to evaluate aortic risk associated with standardized care. Patients who fulfilled the international criteria, had not had previous aortic surgery or dissection, and came to our center at least twice were included. Aortic measurements were made with echocardiography (every 2 years); patients were given systematic β-blockade and advice about sports activities. Prophylactic aortic surgery was proposed when the maximal aortic diameter reached 50 mm. Seven hundred thirty-two patients with Marfan syndrome were followed up for a mean of 6.6 years. Five deaths and 2 dissections of the ascending aorta occurred during follow-up. Event rate (death/aortic dissection) was 0.17%/y. Risk rose with increasing aortic diameter measured within 2 years of the event: from 0.09%/y per year (95% confidence interval, 0.00-0.20) when the aortic diameter was <40 mm to 0.3% (95% confidence interval, 0.00-0.71) with diameters of 45 to 49 mm and 1.33% (95% confidence interval, 0.00-3.93) with diameters of 50 to 54 mm. The risk increased 4 times at diameters ≥50 mm. The annual risk dropped below 0.05% when the aortic diameter was <50 mm after exclusion of a neonatal patient, a woman who became pregnant against our recommendation, and a 72-year-old woman with previous myocardial infarction.
Risk of sudden death or aortic dissection remains low in patients with Marfan syndrome and aortic diameter between 45 and 49 mm. Aortic diameter of 50 mm appears to be a reasonable threshold for prophylactic surgery.
由于缺乏与马凡综合征相关的主动脉风险数据，马凡综合征的最佳治疗方案（包括手术时机）仍存在争议。
我们使用数据库评估了与标准化治疗相关的主动脉风险。纳入标准为：符合国际标准、未行主动脉手术或夹层、至少两次就诊于我院的马凡综合征患者。通过超声心动图测量主动脉直径（每 2 年 1 次）；给予患者系统的β受体阻滞剂治疗并提供运动建议。当最大主动脉直径达到 50mm 时，建议行预防性主动脉手术。732 例马凡综合征患者平均随访 6.6 年。随访期间有 5 例死亡和 2 例升主动脉夹层。事件发生率（死亡/主动脉夹层）为 0.17%/年。风险随事件发生前 2 年内测量的主动脉直径增加而升高：当主动脉直径<40mm 时，每年的风险为 0.09%/年（95%置信区间，0.00-0.20）；当直径为 45-49mm 时，风险为 0.3%（95%置信区间，0.00-0.71）；当直径为 50-54mm 时，风险为 1.33%（95%置信区间，0.00-3.93）。当主动脉直径≥50mm 时，风险增加 4 倍。排除一名新生儿患者、一名违背我们建议怀孕的女性和一名有既往心肌梗死的 72 岁女性后，当主动脉直径<50mm 时，每年的风险降至 0.05%以下。
主动脉直径在 45-49mm 之间的马凡综合征患者发生猝死或主动脉夹层的风险仍然较低。主动脉直径达到 50mm 似乎是预防性手术的合理阈值。
