Author:
Jondeau Guillaume,Ropers Jacques,Regalado Ellen,Braverman Alan,Evangelista Arturo,Teixedo Guisela,De Backer Julie,Muiño-Mosquera Laura,Naudion Sophie,Zordan Cecile,Morisaki Takayuki,Morisaki Hiroto,Von Kodolitsch Yskert,Dupuis-Girod Sophie,Morris Shaine A.,Jeremy Richmond,Odent Sylvie,Adès Leslie C.,Bakshi Madhura,Holman Katherine,LeMaire Scott,Milleron Olivier,Langeois Maud,Spentchian Myrtille,Aubart Melodie,Boileau Catherine,Pyeritz Reed,Milewicz Dianna M.
Abstract
Background—
The natural history of aortic diseases in patients with
TGFBR1
or
TGFBR2
mutations reported by different investigators has varied greatly. In particular, the current recommendations for the timing of surgical repair of the aortic root aneurysms may be overly aggressive.
Methods and Results—
The Montalcino Aortic Consortium, which includes 15 centers worldwide that specialize in heritable thoracic aortic diseases, was used to gather data on 441 patients from 228 families, with 176 cases harboring a mutation in
TGBR1
and 265 in
TGFBR2
. Patients harboring a
TGFBR1
mutation have similar survival rates (80% survival at 60 years), aortic risk (23% aortic dissection and 18% preventive aortic surgery), and prevalence of extra-aortic features (29% hypertelorism, 53% cervical arterial tortuosity, and 27% wide scars) when compared with patients harboring a
TGFBR2
mutation. However,
TGFBR1
males had a greater aortic risk than females, whereas
TGFBR2
males and females had a similar aortic risk. Additionally, aortic root diameter prior to or at the time of type A aortic dissection tended to be smaller in patients carrying a
TGFBR2
mutation and was ≤45 mm in 6 women with
TGFBR2
mutations, presenting with marked systemic features and low body surface area. Aortic dissection was observed in 1.6% of pregnancies.
Conclusions—
Patients with
TGFBR1
or
TGFBR2
mutations show the same prevalence of systemic features and the same global survival. Preventive aortic surgery at a diameter of 45 mm, lowered toward 40 in females with low body surface area,
TGFBR2
mutation, and severe extra-aortic features may be considered.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),Cardiology and Cardiovascular Medicine,Genetics
Cited by
143 articles.
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