Case report

Following images and videos show a case of mitral valve dysplasia syndrome diagnosed in the early second trimester, characterized by mitral valve dysplasia, severe aortic valve stenosis, substantial mitral regurgitation and intact atrial septum.

In this case there was no left heart dilatation because the early gestational age. Our diagnosis the parents opted for termination of the pregnancy. An autopsy was performed andrevealed fibroelastosis of mitral valve chordae and aortic valve stenosis.

Images 1 and 2: 2D images of the fetal heart showing increased echogenicity and enlarged mitral valve.

Images 3 and 4: Doppler images showing reversed flow secondary to aortic stenosis.

Image 5: spectral Doppler image shows severe tricuspid regurgitation.

Videos 1-4: 2D and Doppler images of the heart showing a dysplastic mitral valve and tricuspid regurgitation.

Images 6-9: pathology specimen analysis confirmed the ultrasound findings.