Key result
Fetal echocardiography documents fatal sinus of Valsalva aneurysm rupture in Marfan syndrome.
Case Report (n=1)
This case report highlights the utility of detailed longitudinal echocardiography in diagnosing and monitoring severe prenatal manifestations of Marfan syndrome, including the rare documentation of a ruptured aneurysm of the aortic sinus of Valsalva.
First fetal aortic sinus Valsalva aneurysm rupture documented in suspected Marfan syndrome; hypothesis-generating for prenatal surveillance strategies.
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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Zych-Krekora et al. (2016) conducted a case report in Marfan syndrome (n=1). Longitudinal echocardiography monitoring and transplacental digoxin was evaluated on Fetal demise. Longitudinal echocardiography in a fetus with Marfan syndrome documented the rupture of an aneurysm of the aortic sinus of Valsalva, followed by fetal demise at 34 weeks gestation.
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