An Unusual Case of Venous Lymphatic Malformation and Hypoplastic Left Heart Diagnosed on Virtual Autopsy [38Q]

INTRODUCTION: Venous lymphatic malformations are slow-flow vascular malformations that are generally benign in nature. However, they can be associated with aneuploidy and functional impairment of nearby organs and structures. Here, we report an unusual case of lymphatic malformation in association with hypoplastic left heart. METHODS: Case Study. RESULTS: A 33 year old multiparous woman was evaluated because of an abnormal Quadscreen (1/47 risk of trisomy 21) and a large left cranio-facial mass detected on a 21 week anatomy scan. This lesion was thought to be an unresectable teratoma. The remainder of the anatomic survey was limited due to the mass effect. The patient experienced preterm labor and delivered at 25 weeks gestation. The infant was liveborn but died shortly after birth despite resuscitative efforts. The neonate had massive hydrops and disfigurement of the face, head, and neck from the mass. The family declined autopsy and genetic testing but agreed to a “virtual autopsy” in the form of a postmortem MRI. MRI identified a large veno-lymphatic malformation, occupying nearly the entire left face/neck, accompanied by hypoplastic left heart and hydrops. CONCLUSION: To our knowledge, there are no prior reports of the association of this severe veno-lymphatic malformation and hypoplastic left heart. We were unable to confirm the presence of aneuploidy, but we found the virtual autopsy to be of great value in establishing the correct etiology of the craniofacial mass and previously undiagnosed hypoplastic left heart.