Prenatal Marfan syndrome: report of one case and review of the literature.
OBJECTIVE
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.


CONCLUSIONS
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.
Lopes
K R M
KR
Perinatal Cardiology, Höpital Robert Debré, Paris, France.
Delezoide
A L
AL
Baumann
C
C
Vuillard
E
E
Luton
D
D
Chitrit
Y
Y
Azancot
A
A
D000328:Adult; D006332:Cardiomegaly / Q000000981:diagnostic imaging; D015150:Echocardiography, Doppler; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005318:Fetal Heart / Q000000981:diagnostic imaging; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics; D017354:Point Mutation; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines