Presentation
Newborn with dysmorphic features, increased work of breathing.
Patient Data
Age: 12 days
Gender: Male
From the case:
Trisomy 18 with ventricular septal defect
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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.