Pyeritz R E
Am J Med. 1981 Nov;71(5):784-90. doi: 10.1016/0002-9343(81)90365-x.
The medical literature reports 32 women affected by the Marfan syndrome who had at least one pregnancy; 16 died of and four survived acute aortic dissection. Most of the women who suffered an aortic complication in association with pregnancy had pre-existing aortic regurgitation, aortic root dilatation or other severe cardiovascular problem. Because women with the Marfan syndrome usually desire children, our clinic records were reviewed and patients were contacted to determine a more representative estimate of maternal risks. The pregnancy histories of women with the Marfan syndrome were compared with those of spouses of men with the Marfan syndrome and those of mothers of a sporadic (new mutation) child with the Marfan syndrome. One of 26 women with the Marfan syndrome died shortly after pregnancy of endocarditis; she was the only woman to have a severe, pre-existing cardiovascular condition. The prevalences of milder pregnancy-associated cardiovascular and general complications did not differ among the study groups. The rate of early spontaneous abortion was higher in women with the Marfan syndrome than in either control group. These results suggest the risk of maternal death is low in women with the Marfan syndrome who have minimal cardiovascular disease. Women with the Marfan syndrome should be counseled regarding pregnancy risks only after review of their cardiovascular status, including an echocardiographically determined aortic root diameter.
医学文献报道了32例患有马凡综合征且至少有过一次妊娠的女性；其中16例死于急性主动脉夹层，4例存活。大多数在妊娠期间出现主动脉并发症的女性此前已有主动脉反流、主动脉根部扩张或其他严重心血管问题。由于患有马凡综合征的女性通常想要孩子，我们查阅了诊所记录并联系了患者，以确定对孕产妇风险更具代表性的评估。将患有马凡综合征女性的妊娠史与患有马凡综合征男性的配偶以及散发性（新突变）马凡综合征患儿的母亲的妊娠史进行了比较。26例患有马凡综合征的女性中有1例在产后不久死于心内膜炎；她是唯一一位患有严重心血管疾病的女性。研究组中较轻的妊娠相关心血管并发症和一般并发症的发生率没有差异。患有马凡综合征的女性早期自然流产率高于任何一个对照组。这些结果表明，患有马凡综合征且心血管疾病轻微的女性孕产妇死亡风险较低。只有在评估了她们的心血管状况，包括通过超声心动图确定的主动脉根部直径后，才应向患有马凡综合征的女性咨询妊娠风险。
