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

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

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Publication date

April 2023

DOI

10.1016/j.jaccas.2023.101790

Publisher

Elsevier BV

Journal

JACC Case Reports

Abstract

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.

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

Abstract

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

Abstract

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