Abstract 11327: De Novo Heart Failure in a Young Adult: A Case of Severe Aortic Regurgitation Secondary to an Aortic Root Aneurysm in a Patient With Marfan's Syndrome

Abstract

A 24-year-old male, with no past medical history, presented to the ER with a 15-day history of insidious abdominal pain and distention, associated with progressive dyspnea on exertion and bilateral lower extremity pitting edema. In the previous 48 hours before his hospital admission, patient began presenting orthopnea and paroxysmal nocturnal dyspnea.On presentation patient was normotensive and tachycardic, with low oxygen saturation on pulse oximetry. On auscultation a loud early diastolic decrescendo murmur was heard at the parasternal border, with and audible S3 gallop. Characteristic Marfanoid habitus was observed. Patient underwent TTE were there was a notable aortic root dilation, mainly at the level of the sinuses of Valsalva, which had a diameter of 85 mm and 62 mm at the sinotubular junction. Ascending and descending aorta had a normal diameter. An eccentric jet of severe aortic regurgitation was also noted, which collided with the anterior mitral valve leaflet causing an Austin Flint phenomenon. Left ventricular ejection fraction was estimated at 24%, severe dilation was noted on all chambers. There were no echocardiographic signs of aortic dissection. Patient underwent genetic testing and ophthalmic evaluation, confirming the diagnosis of Marfan’s syndrome. A contrast enhanced CT angiogram confirmed the presence of severe aortic root dilation without dissection. Patient underwent Bentall procedure and began treatment for HFrEF at discharge. Marfan Syndrome is an autosomal dominant connective tissue disorder, due to mutations mostly in the FBN1 gene. Most cardiovascular symptoms are related to dilation of the aortic root and subsequent aortic regurgitation due to aortic annulus dilation. In patients with Marfan’s syndrome, all aortic root aneurysms ≥5.0 mm should undergo surgical repair regardless of symptoms.