Summary

Sinus of Valsalva aneurysms (SVA) are uncommon cardiac anomalies. They represent only 0.1–3.5% of congenital heart defects. While rupture of an SVA can lead to acute left-to-right shunting and heart failure, its association with chromosome 22q11.2 deletion (DiGeorge syndrome) has rarely been documented.

Transthoracic echocardiography (TTE) revealed a continuous systolic-diastolic jet suggestive of aortic-to-right-atrial communication. TEE and contrast-enhanced computed tomography (CT) confirmed rupture of a right-coronary-cusp SVA into the right atrium. The patient underwent urgent surgical repair. Initial direct-suture closure was unsuccessful because of persistent flow and was converted to definitive pericardial-patch repair. Postoperative TTE demonstrated complete closure and preserved biventricular function. To the best of our knowledge, this case represents only the third known example of ruptured SVA in a patient with DiGeorge syndrome. It underscores the expanding cardiovascular phenotype of 22q11.2 deletion and highlights the role of multimodality imaging and timely surgical intervention.