Author + information
- Amine Mazine,
- Joseph H. Moryousef-Abitbol,
- Hanna Faghfoury,
- James M. Meza,
- Chantal Morel and
- Maral Ouzounian
Background: Thoracic aortic aneurysm and dissection (TAAD) is a heterogeneous disease with little evidence to guide decision-making regarding genetic testing. The objective of this study was to determine the yield of genetic testing in this population.
Methods: From 2007 to 2016, 285 consecutive patients with TAAD were referred for genetic assessment at a single institution. Of these, 225 patients (79%) underwent genetic testing (sequencing, deletion/duplication, or both), with a median of 9 genes tested per patient. The most commonly tested genes were TGFBR2 (88%), TGFBR1 (86%), FBN1 (84%), and ACTA2 (77%).
Results: A clinical diagnosis of a syndromic aortopathy was made in 51 patients (22%), with Marfan syndrome being the most common (36/51; 71%). Of the 225 patients (79%) who underwent genetic testing, a pathogenic mutation was identified in 51 (23%), a variant of unknown significance in 57 (25%) and a negative result in 117 (52%) (Table 1). Of those with a mutation, the most commonly involved gene was FBN1 (35/51; 69%). On multivariable analysis, independent predictors of a pathogenic mutation were younger age (OR 1.82/10 years; p = 0.001), female sex (OR 4.89; p < 0.001), history of aortic surgery (OR 4.00; p = 0.001), mitral valve prolapse (OR 7.22; p < 0.001) and family history of TAAD (OR 2.62; p = 0.022).
Conclusions: Almost half of patients with TAAD referred for genetic assessment were found to have a genetic variant with a wide range of features. A genetics assessment should be considered in patients with TAAD.
Moderated Poster Contributions
Vascular Medicine Moderated Poster Theater, Poster Hall, Hall C
Friday, March 17, 2017, 10:00 a.m.-10:10 a.m.
Session Title: Highlights in Vascular Medicine Research
Abstract Category: 40. Vascular Medicine: Non Coronary Arterial Disease
Presentation Number: 1139M-03
- 2017 American College of Cardiology Foundation