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 2018-01-22  Case of the week # 464  © Oueslati Boujemaa  www.TheFetus.net
Answer to the case of the week # 464
February 15 - March 1, 2018

Oueslati Boujemaa, MD
Centre de Médecine Fœtale et de Diagnostic prénatal
Tunisie

Case report



A 28-year-old woman (G1P0) with unremarkable history was sent to our unit at 26 weeks of gestational age to evaluate anechoic mediastinal images seen at 22 week in another facility. Our ultrasound examination revealed the following vascular findings:

-Dilated supra-aortic vascular structures and aneurysm of pulmonary artery, aorta and carotid arteries.
-Tetrallogy of Fallot: overriding aorta, membranous septal defect, pulmonary artery stenosis.

Based on this ultrasound findings we suggested the prenatal diagnosis of Ehlers-Danlos syndrome or Marfan syndrome.
An amniocentesis was done and revealed a normal karyotype (46, XX)

The baby was born at  37 weeks of gestational (3.500 gr). She was cyanotic and hospitalization and reanimation maneuvers were done. The baby died at day two.

Specimen evaluation confirmed the prenatal findings of tetrallogy of Fallot associated with multiple aneurysms, and made the final clinical diagnosis of Ehlers-Danlos syndrome, probably type IV.


Images 1-4; videos 1-4:
2D and Doppler images of the fetal heart in different places showing tetrallogy of Fallot and multiple aneurysms in the pulmonary artery, carotid arteries and aorta.

  
  



Images 5-8: videos 5-12: 
2D and Doppler images of the fetal heart in different places showing tetrallogy of Fallot and multiple aneurysms in the pulmonary artery, carotid arteries and aorta.

  
    



Images 9 and 10: post-mortem images showing dilated and aneurysmatic aorta and pulmonary artery, and overriding aorta in the context of tetrallogy of Fallot

 
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