Related Experiment Video
Updated: Aug 3, 2026
07:41
Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure
Published on: February 8, 2022
Ventricular septal defect with overriding aorta in trisomy-18
R J Moene1, M Sobotka-Plojhar, A Oppenheimer-Dekker
1Department of Paediatric Cardiology, Free University Hospital, Amsterdam, The Netherlands.
European Journal of Pediatrics
|June 1, 1988
Summary
Prenatal echocardiography detecting a ventricular septal defect with overriding aorta in a child suggests a 50% risk of trisomy-18. Further ultrasound and genetic testing are recommended for diagnosis.
Area of Science:
- Pediatric Cardiology
- Prenatal Diagnosis
- Medical Genetics
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder associated with multiple congenital anomalies.
- Congenital heart defects are common in infants with trisomy 18.
- Prenatal diagnosis of cardiac malformations can guide further investigation.
Observation:
- A case report details a child diagnosed prenatally with a ventricular septal defect and overriding aorta via echocardiography.
- A prior anatomical study revealed a 50% concurrence rate between this specific heart malformation and trisomy 18.
Findings:
- Prenatal echocardiography identified a ventricular septal defect with an overriding aorta.
- This cardiac anomaly has a significant association with trisomy 18.
Implications:
- Prenatal detection of this heart defect warrants a comprehensive ultrasound to screen for other trisomy 18-related anomalies.
- Cytogenetic analysis of amniotic cells is advised for definitive diagnosis of trisomy 18.
- Early diagnosis allows for appropriate management planning and parental counseling.
Related Concept Videos
01:15Thoracic Aorta
The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
01:25Abdominal Aorta
Once the aorta traverses the diaphragmatic plane at the aortic hiatus, it is known as the abdominal aorta. This anatomical structure is positioned leftward of the spinal column, encased within a cocoon of adipose tissue behind the peritoneal cavity. It terminates at the L4 vertebra, where it splits into the common iliac arteries. Prior to this bifurcation, the abdominal aorta gives rise to several vital branches.
The celiac trunk, a singular artery, divides into the left gastric artery, which...
The celiac trunk, a singular artery, divides into the left gastric artery, which...
01:22Mitral Stenosis I: Introduction
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
01:15Aortic Regurgitation I: Introduction
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...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...