Isolated Absent Aortic Valve: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation

Isolated Absent Aortic Valve: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation

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 seque...

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Bibliographic Details
Main Authors: 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
Language:English
Published: Elsevier 2023-04-01
Series:JACC: Case Reports
Subjects:
aortic valve
fetal diagnosis
fetal echocardiography
whole genome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2666084923000657

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http://www.sciencedirect.com/science/article/pii/S2666084923000657

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