Isolated Absent Aortic Valve: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation
oleh: Eleanor L. Schuchardt, MD, Paul Grossfeld, MD, Stephen Kingsmore, MD, DSc, Yan Ding, MD, Lisa A. Vargas, RDCS, Dan A. Dyar, MA, RDCS, Arturo Mendoza, MD, Kirsten B. Dummer, MD
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-04-01 |
Deskripsi
We present a 22-week fetus with isolated absent aortic valve and inverse circular shunt. The pregnancy was interrupted. Here, echocardiography and pathology images demonstrate this rare entity. Whole genome sequencing revealed a potentially disease-causing variant in the APC gene. Whole genome sequencing should be considered in severe and rare fetal diseases. (Level of Difficulty: Advanced.)