Author + information
- Jennifer Chung,
- Chantal Morel,
- Sheri Horsburgh,
- Wilfred Ip,
- Hanna Faghfoury and
- Maral Ouzounian
Background: Patients with familial thoracic aortic aneurysms and dissections (F-TAAD) have an elevated risk of dissection or rupture, but are more difficult to identify as being hereditary than syndromic patients. We aimed to identify features differentiating patients with F-TAAD from those with sporadic thoracic aortic aneurysms and dissections (S-TAAD).
Methods: From 2007 to 2015, 286 patients with TAAD underwent genetic assessment at a single institution. Those with a family history or a clinical diagnosis of connective tissue disorders were excluded. Patients with a family history of TAAD were classified as familial (n=54), the rest as sporadic (n=172). Majority underwent genetic testing (F-TAAD: 83%, S-TAAD: 77%).
Results: Mean age was similar between groups (F-TAAD: 48±13 vs. S-TAAD: 45±14, p=0.19). Patients with F-TAAD were less likely to be male (65% vs. 80%, p=0.004) and less likely to have joint flexibility (F-TAAD: 9% vs. S-TAAD: 26%, p=0.008). Patients with F-TAAD were more likely to have extensive aneurysms with arch involvement (Table 1). Furthermore, patients with F-TAAD were more likely to have a pathogenic mutation (F-TAAD: 20%, S-TAAD: 5%, p<0.001), specifically an MYH11 mutation (F-TAAD: 10%, S-TAAD: 1%, p<0.001). The two groups had a similar rate of variants of unknown significance (F-TAAD: 22%, S-TAAD: 33%, p=0.14).
Conclusions: Patients with familial and sporadic TAAD may be differentiated in terms of clinical features, genetics and aortic involvement.
Poster Hall, Hall C
Friday, March 17, 2017, 10:00 a.m.-10:45 a.m.
Session Title: Vascular Medicine: New Insights Into Aortic and Peripheral Artery Diseases
Abstract Category: 40. Vascular Medicine: Non Coronary Arterial Disease
Presentation Number: 1128-356
- 2017 American College of Cardiology Foundation