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

JACC: Case Reports (Apr 2023)

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

Affiliations

Eleanor L. Schuchardt, MD: Heart Institute, Rady Children’s Hospital San Diego, San Diego, California, USA; Division of Cardiology, Department of Pediatrics, University of California-San Diego School of Medicine, San Diego, California, USA; Address for correspondence: Dr Eleanor L. Schuchardt, Rady Children’s Hospital Cardiology, 3020 Children’s Way, MC 5004, San Diego, California 92123, USA.
Paul Grossfeld, MD: Heart Institute, Rady Children’s Hospital San Diego, San Diego, California, USA; Division of Cardiology, Department of Pediatrics, University of California-San Diego School of Medicine, San Diego, California, USA
Stephen Kingsmore, MD, DSc: Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA
Yan Ding, MD: Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital, San Diego, California, USA
Lisa A. Vargas, RDCS: Heart Institute, Rady Children’s Hospital San Diego, San Diego, California, USA
Dan A. Dyar, MA, RDCS: Heart Institute, Rady Children’s Hospital San Diego, San Diego, California, USA
Arturo Mendoza, MD: Department of Pathology, Sharp Healthcare, San Diego, California, USA
Kirsten B. Dummer, MD: Heart Institute, Rady Children’s Hospital San Diego, San Diego, California, USA; Division of Cardiology, Department of Pediatrics, University of California-San Diego School of Medicine, San Diego, California, USA

Journal volume & issue: Vol. 11
p. 101790

Abstract

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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.)

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

About the journal

Abstract

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