David Hochstein MBBS MBA, Valentin Belinson MD, Efrat Mazor MD, Rafael Kupershtein MD, Leonid Sternik MD, Roy Raphael MD, Ohad Bitan MD, Yoni Grossman MD
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.