CTICasesComplex Congenital Heart Disease and Abernathy Malformation in Trisomy 21
Imaging findings
Cardiac MRI demonstrates multiple congenital anomalies including an ostium primum defect (endocardial cushion defect), VSD, ASD, thickened right ventricle, dilated right atrium, left aortic arch with an aberrant right subclavian artery, patent ductus arteriosus, a repaired aortic coarctation, and an Abernathy malformation (Type 2) with the portal vein draining directly into the IVC.
Key takeaways
Trisomy 21 is associated with a spectrum of congenital anomalies, including complex cardiac defects (e.g., endocardial cushion defects, arch anomalies) and rarer vascular malformations like Abernathy malformation (portal vein bypassing the liver). Multimodality imaging is crucial for comprehensive assessment in these patients.
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