Zhang Qian-Nan, Xu Feng-Li, Shi Shan-Shan
CICU, Heart Centre, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Turk Gogus Kalp Damar Cerrahisi Derg. 2023 Aug 1;32(1):93-96. doi: 10.5606/tgkdc.dergisi.2024.24850. eCollection 2024 Jan.
A 30-year-old woman with ankylosing spondylitis was referred to our clinic with abnormal fetal echocardiography findings, including ascending aortic dilatation, giant main pulmonary artery aneurysm, and aortic and pulmonary valve stenosis at 22 weeks of gestation. The full-term male neonate was born by cesarean section and was transferred to the cardiac intensive care unit soon after delivery for respiratory distress with low percutaneous oxygen saturation. Based on cardiovascular and genetic analysis findings, the patient was diagnosed with Marfan syndrome. Surgery was performed; however, the patient died due to cardiac arrest. In conclusion, main pulmonary artery dilatation and aneurysms are uncommon in Marfan syndrome; therefore, presentation with these findings during the fetal life, as in the present case, is likely a sign of severe Marfan syndrome-related cardiac involvement.
一名30岁的强直性脊柱炎女性因胎儿超声心动图检查结果异常转诊至我们的诊所，这些异常包括升主动脉扩张、巨大的主肺动脉瘤以及妊娠22周时的主动脉和肺动脉瓣狭窄。足月男婴通过剖宫产出生，出生后不久因经皮血氧饱和度低导致呼吸窘迫被转入心脏重症监护病房。根据心血管和基因分析结果，该患者被诊断为马凡综合征。患者接受了手术；然而，患者因心脏骤停死亡。总之，主肺动脉扩张和动脉瘤在马凡综合征中并不常见；因此，如本病例所示，在胎儿期出现这些表现可能是严重的马凡综合征相关心脏受累的迹象。
