Hwa J, Richards J G, Huang H, McKay D, Pressley L, Hughes C F, Jeremy R W
Royal Prince Alfred Hospital, Camperdown, NSW.
Med J Aust. 1993 Apr 19;158(8):558-62. doi: 10.5694/j.1326-5377.1993.tb121876.x.
To determine the relationship between age and aortic dilatation in patients with Marfan syndrome and to define the rate of progression of aortic dilatation in these patients.
All patients were evaluated in a multidisciplinary clinic to establish a firm diagnosis of Marfan syndrome. Aortic dimensions were measured by echocardiography and patients with Marfan syndrome were followed up with annual physical and echocardiographic examinations to detect any change in aortic diameter over the subsequent four years.
One hundred and fifty-seven patients were referred to the clinic for assessment, of whom 40 exhibited diagnostic features of Marfan syndrome. Only 24 of these patients had previously been diagnosed with Marfan syndrome, while 17 other patients, previously diagnosed with Marfan syndrome, had insufficient clinical features to justify the diagnosis.
Among the 40 patients (19 male, 21 female) with Marfan syndrome (mean age, 28 +/- 15 years), the prevalence of cardiovascular abnormalities was 90%. Aortic root dilatation was present in 78% of patients, aortic regurgitation in 28%, mitral valve prolapse in 65% and mitral regurgitation in 35%. Mean aortic root diameter in the Marfan patients (21.4 +/- 4.0 mm/m2 body surface area) markedly exceeded that of age and sex matched controls without Marfan syndrome (14.9 +/- 2.2 mm/m2) and that of first-degree relatives without Marfan syndrome (15.3 +/- 2.9 mm/m2). The occurrence of aortic dilatation in Marfan syndrome was variable, with patients as young as 20 years exhibiting severe dilatation. All patients with Marfan syndrome exhibiting aortic dilatation were advised to take beta-adrenergic blocking drugs, unless contraindicated, in an effort to retard the rate of aortic dilatation. Among 33 patients followed up for at least one year, 14 (42%) exhibited an increase in aortic diameter of at least 2 mm, while 16 of 23 patients (70%) followed up for at least three years exhibited similar progression of aortic dilatation. The overall mean rate of dilatation in the Marfan patients was 1.9 mm per year. Nine patients developed aortic dilatation of more than 50 mm diameter during four years' follow-up and required surgical repair of the aorta. Each of these patients is well at between three months' and four years' follow-up.
Aneurysmal dilatation of the aorta is a common complication of Marfan syndrome and may become manifest at an early age. Furthermore, aortic dilatation can progress rapidly, even in the absence of symptoms. Individuals with Marfan syndrome should have annual echocardiographic examinations to monitor aortic root dimensions, and those exhibiting rapid progression of aortic dilatation or an aortic root diameter in excess of 50 mm, should be considered for elective composite graft repair of the aorta.
确定马方综合征患者年龄与主动脉扩张之间的关系，并明确这些患者主动脉扩张的进展速率。
所有患者均在多学科诊所接受评估，以确诊马方综合征。通过超声心动图测量主动脉尺寸，并对马方综合征患者进行年度体格检查和超声心动图检查，以检测其后四年内主动脉直径的任何变化。
157名患者被转诊至该诊所进行评估，其中40名表现出马方综合征的诊断特征。这些患者中只有24名先前已被诊断为马方综合征，而另外17名先前被诊断为马方综合征的患者，其临床特征不足以支持该诊断。
在40名（19名男性，21名女性）马方综合征患者（平均年龄28±15岁）中，心血管异常的患病率为90%。78%的患者存在主动脉根部扩张，28%存在主动脉瓣反流，65%存在二尖瓣脱垂，35%存在二尖瓣反流。马方综合征患者的平均主动脉根部直径（21.4±4.0mm/m²体表面积）明显超过无马方综合征的年龄和性别匹配对照者（14.9±2.2mm/m²）以及无马方综合征的一级亲属（15.3±2.9mm/m²）。马方综合征中主动脉扩张的发生情况各不相同，年仅20岁的患者就出现了严重扩张。所有出现主动脉扩张的马方综合征患者均被建议服用β-肾上腺素能阻滞剂（除非有禁忌），以减缓主动脉扩张速率。在33名至少随访一年的患者中，14名（42%）主动脉直径增加至少2mm，而在23名至少随访三年的患者中，16名（70%）出现了类似的主动脉扩张进展。马方综合征患者的总体平均扩张速率为每年1.9mm。9名患者在四年随访期间主动脉扩张直径超过50mm，需要进行主动脉手术修复。这些患者在随访三个月至四年期间均状况良好。
主动脉瘤样扩张是马方综合征的常见并发症，可能在早年出现。此外，即使没有症状，主动脉扩张也可能迅速进展。马方综合征患者应每年进行超声心动图检查以监测主动脉根部尺寸，对于主动脉扩张进展迅速或主动脉根部直径超过50mm的患者，应考虑进行选择性主动脉复合移植物修复。
