International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations
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International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations : Results of the MAC (Montalcino Aortic Consortium). / 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; Montalcino Aortic Consortium.
In: CIRC-CARDIOVASC GENE, Vol. 9, No. 6, 12.2016, p. 548-558.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations
T2 - Results of the MAC (Montalcino Aortic Consortium)
AU - Jondeau, Guillaume
AU - Ropers, Jacques
AU - Regalado, Ellen
AU - Braverman, Alan
AU - Evangelista, Arturo
AU - Teixedo, Guisela
AU - De Backer, Julie
AU - Muiño-Mosquera, Laura
AU - Naudion, Sophie
AU - Zordan, Cecile
AU - Morisaki, Takayuki
AU - Morisaki, Hiroto
AU - Von Kodolitsch, Yskert
AU - Dupuis-Girod, Sophie
AU - Morris, Shaine A
AU - Jeremy, Richmond
AU - Odent, Sylvie
AU - Adès, Leslie C
AU - Bakshi, Madhura
AU - Holman, Katherine
AU - LeMaire, Scott
AU - Milleron, Olivier
AU - Langeois, Maud
AU - Spentchian, Myrtille
AU - Aubart, Melodie
AU - Boileau, Catherine
AU - Pyeritz, Reed
AU - Milewicz, Dianna M
AU - Montalcino Aortic Consortium
N1 - © 2016 American Heart Association, Inc.
PY - 2016/12
Y1 - 2016/12
N2 - 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.
AB - 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.
KW - Aorta, Thoracic/diagnostic imaging
KW - Aortic Diseases/diagnostic imaging
KW - Australia/epidemiology
KW - Europe/epidemiology
KW - Female
KW - Genetic Predisposition to Disease
KW - Heterozygote
KW - Humans
KW - Japan/epidemiology
KW - Kaplan-Meier Estimate
KW - Male
KW - Mutation
KW - Phenotype
KW - Pregnancy
KW - Pregnancy Complications, Cardiovascular/diagnostic imaging
KW - Prevalence
KW - Proportional Hazards Models
KW - Protein-Serine-Threonine Kinases/genetics
KW - Receptor, Transforming Growth Factor-beta Type I
KW - Receptor, Transforming Growth Factor-beta Type II
KW - Receptors, Transforming Growth Factor beta/genetics
KW - Registries
KW - Retrospective Studies
KW - Risk Factors
KW - Severity of Illness Index
KW - Treatment Outcome
KW - United States/epidemiology
KW - Vascular Surgical Procedures
U2 - 10.1161/CIRCGENETICS.116.001485
DO - 10.1161/CIRCGENETICS.116.001485
M3 - SCORING: Journal article
C2 - 27879313
VL - 9
SP - 548
EP - 558
JO - CIRC-CARDIOVASC GENE
JF - CIRC-CARDIOVASC GENE
SN - 1942-325X
IS - 6
ER -
