Abstract
A 36-year-old previously active and healthy male was referred to our Adult Congenital Heart Disease clinic with worsening exertional dyspnea and intermittent palpitations over the past 6 months. He had recently been diagnosed with a membranous ventricular septal defect (VSD) and membranous septal aneurysm at another hospital, although images were not available for review.On physical exam, a continuous cardiac murmur was noted which prompted reconsideration of the diagnosis, with highest suspicion of ruptured sinus of Valsalva aneurysm (SVA). An urgent cardiac CT was obtained, which showed a large, mobile right SVA protruding into and partially obstructing the right ventricular outflow tract (RVOT), with pulmonic regurgitation and dynamic closure of a supracristal VSD (Figure 1A). A margin of the SVA was ill-defined and suspicious for rupture, although no definite communication was seen. An expedited TTE showed findings consistent with SVA rupture (Figure 1B), and he was admitted for surgery soon thereafter. Intra-operatively (Figure 1C), SVA rupture into the RVOT was confirmed by direct inspection; the SVA tissue was resected, the defect closed with a fresh autologous pericardial patch, and the VSD was closed with pledgeted sutures. Post-operatively, there was no leakage around the patch margin and only trace aortic regurgitation.A ruptured SVA causes continuous shunting from the aorta into an adjacent cardiac chamber and if left unrecognized, can lead to right heart failure, arrhythmia, and potentially sudden death, emphasizing the need for early identification. Echocardiography may show an aneurysmal sinus of Valsalva with a continuous (with accentuation in diastole) high-velocity, turbulent flow-jet into an adjacent cardiac chamber, and holodiastolic aortic flow reversal; a VSD is often present. Cross-sectional imaging is also important for diagnosis and surgical planning. A comprehensive physical exam is crucial to mitigate the risk of misdiagnosis.
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