Related Experiment Video
Updated: Aug 2, 2025
12:12
Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
Published on: February 14, 2017
16.1K
Isolated Absent Aortic Valves: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation
Eleanor L Schuchardt1,2, Paul Grossfeld1,2, Stephen Kingsmore3
1Heart Institute, Rady Children's Hospital San Diego, San Diego, California, USA.
JACC. Case Reports
|April 20, 2023
Summary
A rare fetal heart defect, absent aortic valve with inverse circular shunt, was identified in a 22-week fetus. Whole genome sequencing revealed a potential disease-causing APC gene variant, suggesting its utility in severe fetal conditions.
Area of Science:
- Cardiology
- Genetics
- Fetal Medicine
Background:
- Congenital heart defects (CHDs) represent a significant cause of infant mortality.
- Isolated absent aortic valve is an extremely rare cardiac malformation.
- Inverse circular shunt is a complex circulatory anomaly.
Observation:
- A 22-week gestational age fetus presented with isolated absent aortic valve and inverse circular shunt.
- Echocardiography and post-mortem pathology confirmed the rare cardiac and circulatory anomalies.
- The pregnancy was terminated due to the severity of the condition.
Findings:
- Whole genome sequencing (WGS) was performed to investigate the underlying genetic etiology.
- A potentially pathogenic variant in the Adenomatous Polyposis Coli (APC) gene was identified.
- This finding suggests a potential genetic link to the observed fetal anomalies.
Implications:
- Whole genome sequencing can be a valuable tool for diagnosing severe and rare fetal diseases.
- Identifying genetic variants may aid in understanding the pathogenesis of complex congenital anomalies.
- Further research is warranted to explore the role of APC gene variants in fetal cardiac development.
Related Concept Videos
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
37
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
37
01:15Aortic Regurgitation I: Introduction
20
IntroductionAortic regurgitation is characterized by the backward flow of blood from the aorta into the left ventricle during diastole and arises from the improper closure of the aortic valve. This condition results in left ventricular volume overload and can stem from both acute and chronic etiologies, each contributing uniquely to the disease's progression and symptomatology.Acute and Chronic CausesAcute aortic regurgitation often results from events that suddenly impair the integrity of the...
20
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
27
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
27
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
39
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
39
01:30Aneurysm I: Introduction
16
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
16
01:27Mitral Valve Prolapse I: Introduction
25
IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
25