病例报告。马凡氏综合征胎儿纵向回声监测对围产期管理的帮助——病例报告及文献复习

K. Zych-Krekora, A. Wójtowicz, M. Krekora, M. Słodki, Hugues Gentillon, M. Respondek-Liberska
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引用次数: 0

摘要

这是一对健康夫妇的第二次怀孕。胎儿(男)在妊娠后半期由于心脏扩大的进展和充血性心力衰竭的超声心动图特征进行了详细的超声心动图监测。马凡氏综合征的怀疑是基于心脏异常。本文首次记录了瓦尔萨尔瓦主动脉窦动脉瘤破裂。尽管经胎盘治疗地高辛,胎儿死亡在妊娠第34周和死后新生儿表型证实产前诊断。马凡氏综合征是一种罕见的遗传异常,可以通过详细的超声心动图在产前诊断,通常预后不良(与生命后期诊断的“良性”病例相反)。最常见的产前心脏表现是心脏肥大伴心功能不全。我们提出新的超声心动图特征的情况下。
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Case report. Longitudinal Echo Monitoring in Fetus with Phenotypical Marfan Syndrome, Helpfull for Perinatal Management - Case Presentation and Literature Review
Abstract It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of aneurysm of aortic sinus Valsalva was documented. Despite transplacental treatment with digoxin there was fetal demise at the 34th week of gestation and postmortem newborn phenotype confirmed prenatal diagnosis. Marfan Syndrome is a rare genetic anomaly which can be diagnosed prenatally by detailed echocardiography, usually with bad prognosis (just opposite to “benign” case diagnosed later on in life span). The most common prenatal cardiac manifestations are cardiomegaly with signs of cardiac insufficiency. We present the case with new echocardiographic features.
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