Abstract 10144: Uncovering the Burden of Familial Thoracic Aortic Aneurysm Disease
Familial thoracic aortic aneurysm and dissection (fTAAD) has been linked with multiple gene mutations in large family studies. Unlike Marfan Syndrome, fTAAD has no characteristic physical signs. Therefore the overall burden of fTAAD and its demographics remain uncertain. We hypothesized that fTAAD may be more common than previously recognized. All probands presenting with TAAD aged less than 60 years in the absence of predisposing conditions (ie hypertension, atherosclerosis, diabetes, aortitis, Marfan Syndrome, Loeys Dietz syndrome, bicuspid aortic valve) were enrolled, and their first-degree relatives screened for fTAAD. Aortic diameter was measured by 2D echocardiography, with maximum diameter at sinus of valsalva or ascending aorta recorded and indexed to body size. A total of 178 probands were identified, 93 of whom had no identifiable affected family members and were defined as sporadic TAAD (sTAAD). The remaining 85 had 1 or more affected family members. Screening of 383 at risk family members identified a further 181 affected individuals (total fTAAD n = 266). The demographics and dissection rates are compared for fTAAD and sTAAD in the Table. Both sTAAD and fTAAD may manifest at young ages, however diagnosis is commonly delayed until middle life, when severe aortic dilatation is already present. Both sTAAD and fTAAD exhibit significant male predominance. Both sTAAD and fTAAD are associated with a high rate of aortic dissection, although fatal dissection is more frequently observed in fTAAD. In conclusion, fTAAD is more common than previously recognized and is associated with high rates of dissection. Clinicians should have a high degree of suspicion for presence of fTAAD in young and middle-aged patients presenting with thoracic aortic disease, and screening of at risk relatives is warranted.
- © 2013 by American Heart Association, Inc.