0144 : Dissection of the ascending aorta in patients with known Marfan syndrome following guidelines

Abstract

Care of patients with Marfan Syndrome (MFS) is now standardized with betablocker therapy, limitation of strenuous exercise and yearly echocardiography. Prophylactic aortic root surgery is recommended when maximal aortic diameter reaches 50 mm. We sought to describe the characteristics of patients with MFS who presented a dissection of the ascending aorta (DAA) during follow up in the CNMR Syndrome de Marfan and related. patients who came at least once in CNMR, had a diagnosis of MFS with a FBN1 gene mutation; patients with DAA were selected. 18 DAA were reported among the 1253 patients with MFS carrying a FBN1 gene mutation. Median age was 41.6 years (range: 15-66 years) and 50% were women. Nine (50%) died of this aortic event. 8 patients had aortic diameter ≥50mm. DAA occurred while waiting for surgery (n=3) or after the patients refused surgery (n=5). Maximal diameter was at the level of the sinuses of Valsalva except in 1 patient with maximal aortic diameter observed in the tubular portion of the ascending aorta. 10 patients had an aortic diameter<50mm. DAA occurred: In three patients during pregnancy ; only one had diameter below 40mm; In a 66 years old female not taking recommended betablockers. At her last visit, the aortic root diameter was 41 mm and an rapid increase in root aortic diameter was noted; In a woman who came for the last time7 years prior to the DAA; In a man waiting for surgery with diameter increasing and measured at 49mm; In 2 men and 1 woman with prior dissection of the descending aorta. DAA occurred in a 17 years old boy with rapid increased of aortic root diameter. None had an aortic bicuspid valve. In patients with MFS carrying FBN1 mutation, DAA is very uncommun when guidelines are applied. The risk of DAA with aortic root diameter below 50mm is increased during pregnancy, with betablocker inobservance, lack of yearly surveillance of aortic diameter and history of descending aorta dissection. The author hereby declares no conflict of interest