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Prenatal Marfan syndrome: report of one case and review of the literature
Author(s) -
Lopes K. R. M.,
Delezoide A. L.,
Baumann C.,
Vuillard E.,
Luton D.,
Chitrit Y.,
Azancot A.
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1482
Subject(s) - medicine , prenatal diagnosis , marfan syndrome , fetus , in utero , cardiology , pregnancy , fetal echocardiography , regurgitation (circulation) , genetics , biology
Objectives Our objective was to describe the features of prenatal Marfan syndrome. Methods Doppler fetal echocardiograms were performed. The morphology and rhythm of the fetal heart were examined sequentially. Results The case was referred because of cardiomegaly and dilated great vessels. Sequential Doppler echocardiographic evaluation led to the diagnosis of prenatal Marfan syndrome. The main features are cardiomegaly, dysplastic atrioventricular valves with tricuspid regurgitation and dilated great vessels, which can be aneurysmal at their origin. The fetus died in utero at 39 weeks of gestation because of cardiac failure. Pathological study confirmed the Marfan habitus and complications. Molecular genetic study showed a de novo point mutation in exon 26 of the FBN1 gene. Conclusion We report a case of prenatal Marfan syndrome diagnosed by sequential evaluation of the cardiac signs, which are essential for prenatal diagnosis. The prognosis seems as poor as the neonatal one. The prenatal diagnosis is essential for adequate counselling. Copyright © 2006 John Wiley & Sons, Ltd.