P1489 Late cardiovascular manifestations of Gregg syndrome: Importance of multimodal imaging approach to optimize diagnosis

Abstract

Background Congenital rubella syndrome, also known as Gregg syndrome (after Dr. Norman Gregg’s first description in 1941) is a variable constellation of multisystemic manifestations caused by rubella intrauterine infection. In this case, a patient known to have Gregg syndrome underwent trans-thoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR) for optimizing the characterization and determining the status of her disease. Case report A 31-year-old female attends routine cardiology outpatient clinic prior initiation of pregnancy due to prior history of Gregg syndrome. Extent of disease includes congenital cataracts, neurosensorial bilateral hearing loss, supra-valvular aortic stenosis (treated percutaneously at age 4 with a subsequent aortic root reconstruction with homograft at age 6) and pulmonary artery stenosis (status-post surgical correction followed by angioplasty at age 9). The patient was asymptomatic with functional class NYHA I and was taking no medication. A TTE was requested which showed a left ventricle with low-normal systolic function. At the pulmonary valve, she had a residual peak velocity and mean gradient of 2.6 m/sec and 15 mmHg, respectively, with moderate regurgitation; the right ventricle was dilated with mild systolic dysfunction. Doppler evaluation of the ascending aorta revealed a peak velocity of 3,5 m/sec and a mean gradient of 30 mmHg (Figure 1a). Anatomical evaluation was limited because of the acoustic window but due to the cited hemo-dynamics, a CMR was requested for further characterization of her disease prior to pregnancy. CMR showed a normal sized left ventricle with an ejection fraction of 62%, without late gadolinium enhancement. The right pulmonary artery lumen was diminished, probably corresponding to an artifact due to previous stent angioplasty. In the ascending aorta there was residual supra-valvular aortic stenosis 9 mm from the sino-tubular junction with an adjacent, non-mobile, 33 x 39 x 20 mm mass, anterior to the aorta and immediately posterior to the sternum, consistent with aortic pseudoaneurysm (Figure 1b). Due to this finding pregnancy was discouraged, and she was referred to the Cardiovascular Surgery for aortic pseudoaneurysm correction. Conclusion Although infrequent because of successful worldwide vaccination policies, sporadic cases of Gregg syndrome can still be seen, especially in neglected populations with poor access to health services or in unvaccinated patients. Long-term follow-up of all patients undergoing repair procedures is warranted for evaluation of late occurring complications. This case underscores the importance of multimodality imaging for a complete anatomical and functional diagnosis of complex cardiovascular conditions. Abstract P1489 Figure 1