Echo Challenge: Which patient most likely has an ASD I (primum defect)?

Can you solve this Echo Challenge in the area of Adult Congenital Heart Disease? Hint, hint, hint; which patient most likely has an ASD I (primum defect)?

Image

Atrial septal defects (ASDs) are classified based on their location within the interatrial septum, with ASD I (primum defect) being part of an endocardial cushion defect, often associated with abnormalities of the atrioventricular valves. Since congenital heart defects frequently coexist, certain structural findings on echocardiography can provide clues about the presence of an ASD I. Carefully analyze the provided echocardiographic images and determine which patient is most likely to have this defect.

Answer to this case!

Here is answer: Yes! A cleft MV is often associated with ASD I!

Image

• SAX view showing a cleft in the anterior mitral valve leaflet (correct – ASD I likely): A cleft anterior mitral leaflet is a hallmark of endocardial cushion defects, strongly associated with a primum ASD.
• Congenitally corrected transposition of the great arteries (ccTGA) (incorrect): While ccTGA can be associated with septal defects, it is not specifically linked to an ASD I.
• Ebstein anomaly (incorrect): Ebstein anomaly involves displacement of the tricuspid valve and can often be accompanied by an ASD II (secundum type), but rarely by an ASD I.
• Pulmonary stenosis (incorrect): Pulmonary stenosis is a right-sided obstruction and does not have a direct embryological link to endocardial cushion defects or ASD I. 

Want to learn more about how to find answers to these questions easily? Our Adult Congenital Heart Disease BachelorClass will teach you all about diagnosing "common" and "simple" congenital heart defects. Check out our course below and watch our free lectures!