PM1003: Echocardiographic Diagnosis of Ruptured Sinus of Valsalva Aneurysm Prompting Timely Surgical Referral

Introduction: Sinus of Valsalva aneurysm (SOVA) is a dilation caused by separation between aortic media and annulus fibrosus, with incidence of < 1% in Western series and 3.5% in Asian series. Concurrent congenital heart disease such as ventricular septal defects, aortic valve abnormalities, and aortic coarctation can be present. SOVA can be congenital and associated with connective tissue disorders such as Marfan’s or Ehlers-Danlos; or acquired from degenerative processes, infection or trauma. The reported risk of SOVA rupture is approximately 35-50%, most commonly in young adults of 30-45 years of age. Ruptured SOVA typically involves right coronary sinus to right ventricle and has important associated risk of morbidity and mortality.

Case Description: 42 year old female of Asian descent with supracristal ventricular septal defect (VSD) repair in infancy presented to an outside institution. She experienced abrupt onset of dyspnea and reduced exercise tolerance with physical exertion 10 years prior. She now presented for worsening non-exertional chest pain and palpitations. Physical examination revealed a grade 3/6 continuous machinery like murmur, louder in systole at left upper sternal border. Transthoracic echocardiography (TTE) showed type 1 SOVA measuring 13 x 7 mm, with rupture of right coronary sinus to right ventricular outflow tract (RVOT) and moderate-severe pulmonary regurgitation due to valve leaflet prolapse. There was severe left heart dilation with preserved systolic and diastolic function. A small residual supracristal VSD was also present; these findings were confirmed on transesophageal echocardiogram (TEE) and CTA. The patient was subsequently referred for timely cardiothoracic surgical evaluation for complete repair.

Discussion: SOVA is a rare cardiac anomaly that is typically asymptomatic with an inherent risk of spontaneous rupture, with associated risk of morbidity and mortality depending on the pertinent anatomical involvement—including infective endocarditis, stroke, arrhythmia, ischemia, heart failure and cardiac arrest. A thorough clinical assessment is critical to diagnose ruptured SOVA, as clinical symptoms typically manifest as a reflection of the location, chronicity, and severity of the disease process. The constellation of aforementioned clinical symptoms and continuous machinery like murmur prompted further cardiac evaluation in our case. TTE played a vital role in timely diagnosis of ruptured SOVA and residual VSD, accelerating further diagnostic evaluation and timely surgical evaluation for complete repair.

Conclusion: Ruptured SOVA is a rare yet important clinical entity warranting timely clinical diagnosis. TTE is a key initial diagnostic tool allowing for rapid escalation of care. Further diagnostic confirmation can be obtained via axial imaging (Cardiac CT / Cardiac MRI) or cardiac catheterization. Timely surgical intervention, typically via direct primary closure vs via pericardial or prosthetic patches, is imperative to allow for the best short and long term outcomes by re-establishing anatomical normalcy and therefore reducing morbidity and mortality.