Aortic Event Rate in the Marfan Population

Abstract

Background-Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease. Methods and Results-We used our database to evaluate aortic risk associated with standardized care. Patients who fulfilled the international criteria, had not had previous aortic surgery or dissection, and came to our center at least twice were included. Aortic measurements were made with echocardiography (every 2 years); patients were given systematic ␤-blockade and advice about sports activities. Prophylactic aortic surgery was proposed when the maximal aortic diameter reached 50 mm. Seven hundred thirty-two patients with Marfan syndrome were followed up for a mean of 6.6 years. Five deaths and 2 dissections of the ascending aorta occurred during follow-up. Event rate (death/aortic dissection) was 0.17%/y. Risk rose with increasing aortic diameter measured within 2 years of the event: from 0.09%/y per year (95% confidence interval, 0.00 -0.20) when the aortic diameter was Ͻ40 mm to 0.3% (95% confidence interval, 0.00 -0.71) with diameters of 45 to 49 mm and 1.33% (95% confidence interval, 0.00 -3.93) with diameters of 50 to 54 mm. The risk increased 4 times at diameters Ն50 mm. The annual risk dropped below 0.05% when the aortic diameter was Ͻ50 mm after exclusion of a neonatal patient, a woman who became pregnant against our recommendation, and a 72-year-old woman with previous myocardial infarction. Key Words: aorta Ⅲ aortic aneurysm, familial thoracic Ⅲ Marfan syndrome M arfan syndrome is a genetic disorder associated with a decreased life expectancy related to the risk of aortic dissection and rupture, leading to death. 1 The life expectancy of these individuals has increased tremendously, by 30 years, over the past 30 years. 2 This improvement is due to earlier diagnosis through increased clinical awareness, familial screening in asymptomatic patients, improved presymptomatic diagnosis in family members resulting from greater recognition of genetic mutations, and better evaluation of aortic risk by easy and reproducible aortic imaging with 2-dimensional echocardiography, computed tomography scanning, and magnetic resonance imaging, allowing regular annual follow-up. These improvements have led to scheduled, timely prophylactic aortic surgery, before aortic dissection or rupture. The optimal timing for aortic surgery has been a subject of debate, 3 but 2 recent task forces have proposed 50 mm as a cutoff value for aortic diameter in terms of the timing of aortic root replacement. 4,5 The importance of the aortic diameter at the level of the sinuses of Valsalva as a determinant of risk of an aortic event in patients with ascending aortic aneurysm is well established 6 ; it is widely agreed that this is the most accurate variable for assessment of risk of aortic dissection or rupture in this population. However, no such data are available for patients with Marfan syndrome. 7 These data are important because aortic dissection may occur at differe...

2017 ESC/EACTS Guidelines for the Management of Valvular Heart Disease

“…59 Root aneurysms need to have root replacement, with or without preservation of the native aortic valve, but definitely with coronary reimplantation. In contrast, tubular ascending aortic aneurysms require only a supracommissural tube graft replacement without coronary reimplantation.…”

Aortic Disease in Patients with Marfan Syndrome: Aortic Volume Assessment for Surveillance

“…Aortic complications are the leading cause of morbidity and mortality in patients with MFS (2,3). With the introduction of prophylactic aortic root surgery at an aortic root diameter of 4.5-5.0 cm, type A aortic dissection can be prevented effectively, and life expectancy for patients with MFS has increased tremendously (4)(5)(6). This increased longevity has shown that aortic complications are not limited to the aortic root and can occur throughout the entire aorta (7).…”

Cine-CMR partial voxel segmentation demonstrates increased aortic stiffness among patients with Marfan syndrome

“…The past decade has witnessed advances in surgical management and pharmacotherapy; however, out of hospital mortality remains high whereby approximately 40% of patients still die in the field, highlighting the importance of more effective risk stratification to prevent aortic complications (4). Current risk stratification is based on initial and serial assessment of aortic diameter with noninvasive imaging, with use of aortic size to guide timing of prophylactic surgery (5). However, size alone imperfectly captures the underlying pathogenesis of TAA.…”