Trisomy 18 with ventricular septal defect

Case contributed by Dr Alexandra Stanislavsky


Newborn with dysmorphic features, increased work of breathing.

Patient Data

Age: 12 days
Gender: Male

The heart is enlarged and there is prominent pulmonary vasculature (pulmonary plethora)

Case Discussion

The differential for a neonate with cardiomegaly and pulmonary plethora who is not cyanotic includes ventricular septal defect (VSD), atrial septal defect (ASD), AVSD and patent ductus arteriosus (PDA). 

This baby with confirmed Trisomy 18 had a large VSD, which was known from antenatal imaging.  

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Case information

rID: 29396
Case created: 22nd May 2014
Last edited: 19th Jul 2017
Inclusion in quiz mode: Included